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1
Maslak, P. "Basophilic Stippling." ASH Image Bank 2005, no. 0531 (2005): 101377. http://dx.doi.org/10.1182/ashimagebank-2005-101377.
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Kano, Nagamasa, Sayato Fukui, Seiko Kushiro, et al. "Basophilic stippling in red blood cells in the bone marrow: indication for lead poisoning diagnosis." Journal of International Medical Research 50, no. 2 (2022): 030006052210784. http://dx.doi.org/10.1177/03000605221078405.
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A 40-year-old man presented at our hospital with anaemia that had been undiagnosed for 2 years. Blood tests, endoscopy, and contrast-enhanced computed tomography were performed, but a definitive diagnosis could not be made. A subsequent bone marrow biopsy revealed basophilic stippling in transformed red blood cells, which led to a differential diagnosis of lead poisoning. Additional tests revealed elevated levels of lead in the blood. Basophilic stippling is generally found on a peripheral blood smear in lead poisoning patients; however, in this case, basophilic stippling was found only on the bone marrow smear and not in the blood smear. Even if basophilic stippling is not found in the peripheral blood, lead poisoning cannot be excluded.
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Lazarchick, J. "Basophilic Stippling - Lead Poisoning." ASH Image Bank 2004, no. 0621 (2004): 101136. http://dx.doi.org/10.1182/ashimagebank-2004-101136.
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Christie, Jasmine, and Adel Ekladious. "Basophilic stippling: not to be missed." Internal Medicine Journal 52, no. 7 (2022): 1280–81. http://dx.doi.org/10.1111/imj.15837.
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Chan, Nelson C. N., and K. P. Chan. "Coarse basophilic stippling in lead poisoning." Blood 129, no. 24 (2017): 3270. http://dx.doi.org/10.1182/blood-2017-03-773499.
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Munoz, Javier, and Yue Guo. "Basophilic stippling: a lead to the diagnosis." Blood 118, no. 20 (2011): 5370. http://dx.doi.org/10.1182/blood-2010-12-320911.
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Morita, Takahide, Toshinori Nishizawa, and Toru Morikawa. "Burton line and basophilic stippling in lead poisoning." Canadian Medical Association Journal 196, no. 14 (2024): E487. http://dx.doi.org/10.1503/cmaj.231405.
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POULSEN, HEMMING ENGELUND. "Basophilic Stippling of the Red Blood Corpuscles during Chrysotherapy." Acta Medica Scandinavica 136, no. 5 (2009): 393–96. http://dx.doi.org/10.1111/j.0954-6820.1950.tb09654.x.
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Prasetya, Hieronymus Rayi. "HUBUNGAN TIMBAL DARAH TERHADAP KELAINAN SEL DARAH PADA ANAK JALANAN DI KOTA YOGYAKARTA." Meditory : The Journal of Medical Laboratory 9, no. 1 (2021): 44–53. http://dx.doi.org/10.33992/m.v9i1.1291.
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Introduction : Increasing ownership of motorized vehicles will be accompanied by increased use of fuel followed by high air pollution (lead). Pb can cause erythrocyte hemolysis and inhibit the formation of hemoglobin. This causes a decrease in the life span of erythrocytes and increases the fragility of erythrocyte membranes. Lead poisoning in the blood is characterized by basophilic stippling in erythocytes. Street musicians who do their work on the edge of the road (traffic light) are a group of populations that are susceptible to Pb poisoning, due to exposure to vehicle fumes every day as well as low knowledge about health conditions and the use of personal protective equipment (masks).Aims : This study aims to determine the effect of lead exposure on quantity (amount) and quality of blood cells (morphology).Method : The study was conducted by survey method, questionnaire and laboratory examination (blood lead, complete blood count, blood cell morphology). The data obtained were 32 samples analyzed using Spearman nonparametric with a confidence level of 95%.Results : The results of blood lead examination obtained 100% of respondents had normal lead levels (100 µg / L). The results also showed no association between blood lead with hemoglobin, erythrocytes, platelets, leukocytes, hematocrit, neutrophils, lymphocytes, monocytes, eosinophils, and basophils. Based on the results of morphological examination of erythrocytes, it shows that all respondents did not experience erythrocyte size, color and shape abnormalities and found no basophilic stippling.Conclutions : There is no relationship between blood lead and the quantity of blood cells. Morphological examination of blood cells found no cell abnormalities and found no basophilic stippling. Despite being exposed to vehicle fumes every day, respondents of street children did not experience lead poisoning and did not experience blood cell disorders.
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Putri Mayaserli, Dyna, Betti Rosita, and Ria Oktafilinda. "HUBUNGAN KADAR TIMBAL (Pb) DI DALAM DARAH DENGAN MORFOLOGI SEL ERITROSIT PADA PEROKOK AKTIF DI LUBUK BUAYA KOTA PADANG." Journal of Research and Education Chemistry 5, no. 2 (2023): 95. http://dx.doi.org/10.25299/jrec.2023.vol5(2).14919.
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Efek paparan ataupun keracunan Timbal (Pb) dapat mengganggu eritropoiesis dengan menginhibisi sintesis protoporfirin, dan mengganggu absorbsi besi yang meningkatkan risiko anemia, pada saraf pusat dan saraf tepi, sistem kardiovaskuler, ginjal, pencernaan, sistem reproduksi, dan bersifat karsinogenik. Penelitian ini bertujuan untuk mengetahui hubungan Timbal (Pb) dalam darah dengan morfologi sel eritrosit pada Perokok Aktif, Jenis penelitian ini adalah eksperimental dengan desain deskriptif dengan menggunakan metode SSA (Spektrofotometer Serapan Atom), dan pemeiksaan morfologi sel eritrosit menggunakan mikroskop. Dari hasil penelitian yang telah dilakukan adanya hubungan antara kadar Timbal (Pb) dengan morfologi sel eritrosit. Dari 20 sampel yang telah di teliti 20 sampel (100%) memiliki kadar Timbal (Pb) di bawah ambang batas normal dan morfologi sel eritrosit tidak normal sebanyak 13 sampel (50%) Rendahnya kadar Timbal (Pb) dalam darah dikarenakan persentase kadar Timbal (Pb) dalam darah Perokok Aktif di Lubuk Buaya Kota Padang jumlahnya sedikit. Tetapi setelah dilakukan pemeriksaan Morfologi Sel Eritrosit didapatkan adanya sel Basophilic stippling pada 13 responden. Dimana untuk mengidentifikasi adanya Timbal (Pb) di dalam Morfologi Sel Eritrosit yaitu adanya sel Basophilic stippling
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Körber, Carolin, Albert Wölfler, Manfred Neubauer та Christoph Robier. "Red blood cell morphology in patients with β-thalassemia minor". LaboratoriumsMedizin 41, № 1 (2017): 49–52. http://dx.doi.org/10.1515/labmed-2016-0052.
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AbstractBackground:A systematic analysis of the occurrence of red blood cell (RBC) abnormalities in β-thalassemia minor has not been performed to date. This study aimed to identify and quantify the frequency of RBC abnormalities in patients with β-thalassemia minor.Methods:We examined blood smears of 33 patients with β-thalassemia minor by light microscopy for the occurrence of 15 defined RBC abnormalities. In the case of positivity, the abnormal cells/20 high power fields (HPF) at 1000-fold magnification were counted.Results:Anisocytosis, poikilocytosis and target cells (median 42/20 HPF) were observed in all, and ovalocytes in 32 (96.9%, median 10/20 HPF) subjects. Dacryocytes (81.8%), stomatocytes (81.8%, median 10/20 HPF), elliptocytes (75.8%), cells with basophilic stippling (72.7%) and irregularly contracted cells (63.6%) were frequently, and schistocytes (15.2%), bite cells (6%) and pincer cells (3%) were occasionally found.Conclusions:Morphological abnormalities of erythrocytes are common in peripheral blood (PB) smears of patients with β-thalassemia minor. In this study, anisocytosis, poikilocytosis and target cells were apparent in all, and ovalocytes, elliptocytes, cells with basophilic stippling, dacryocytes, stomatocytes and irregularly contracted cells were observed in the majority of the analyzed slides. Our observations may be useful to improve the differential diagnosis of anemia in clinical laboratory routine.
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Vander Meeren, Sam, An Van Damme, and Kristin Jochmans. "Prominent basophilic stippling and hemochromatosis in glucose-6-phosphate dehydrogenase deficiency." International Journal of Hematology 101, no. 2 (2014): 112–13. http://dx.doi.org/10.1007/s12185-014-1716-6.
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Zamani, Amir, Ehsan Sarraf Kazerooni, S. Saeed Kasaee, et al. "And the Oscar Goes to Peripheral Blood Film for the Detection of Lead Poisoning in a Complicated Toxic Patient: A Case Report with a Review of Laboratory Clues." Case Reports in Medicine 2022 (February 23, 2022): 1–6. http://dx.doi.org/10.1155/2022/9238544.
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Background. Peripheral blood smear examination is an invaluable laboratory test, which provides the complete hematologic and/or nonhematologic picture of a case. In addition to verifying the results of automated cell counters, it has the potential to identify some pathologic and morphologic changes that remain hidden using the cell counters alone. Case Presentation. A 40-year-old man with a three-year history of alcohol intake and marijuana abuse presented with severe lower extremities of the bone and abdominal pain. Physical examination showed high blood pressure, high pulse rate, and abdominal tenderness. He underwent extensive laboratory and imaging tests, and cholecystectomy and bone marrow studies were associated with no definite diagnosis. Right after all these invasive, expensive, and time-consuming investigations during a month, finding coarse basophilic stippling in the red blood cells in the peripheral blood smear by an expert led to the final diagnosis. Elevated blood lead level and the presence of ring sideroblasts in the bone marrow study confirmed the diagnosis of lead poisoning, and the patient responded well to chelator therapy in a short period. Conclusion. This case clearly showed the value of peripheral blood smear review and its impact on patient care. In order not to lose the cases, laboratories are recommended to design their own policy for peripheral blood smear review. The peripheral blood smear is the fastest, simplest, and most available screening test, which can prevent many misdiagnoses and malpractices. It provides rich morphological information, among which basophilic stippling is highly suggestive of lead poisoning.
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Mitchell-Heggs, C. A. W., M. Conway, and J. Cassar. "Herbal Medicine as a Cause of Combined Lead and Arsenic Poisoning." Human & Experimental Toxicology 9, no. 3 (1990): 195–96. http://dx.doi.org/10.1177/096032719000900314.
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1 Combined chronic lead and arsenic poisoning was diagnosed in a 33-year-old Korean woman following consumption of a Korean herbal medicine prescribed for haemorrhoids. 2 The patient had malaise, severe difficulty walking, arthralgia, oedema and abdominal pain with diarrhoea. 3 Investigation showed anaemia with basophilic stippling, fragmentation and a raised reticulocyte count. 4 Raised blood and urine lead levels and urine arsenic levels were found. 5 Analysis of the herbal medicine revealed a high lead and arsenic content. 6 Treatment with the newer chelating agent 2,3-dimercaptosuccinic acid was successful, with no detectable side-effects.
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Ooi, D. S., and S. L. Perkins. "A Ceramic Glazer Presenting with Extremely High Lead Levels." Human Toxicology 7, no. 2 (1988): 171–74. http://dx.doi.org/10.1177/096032718800700211.
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A case of lead poisoning in a ceramic glazer is reported. The patient had an extremely high level of blood lead at 29.5 μmol/l, and many of the laboratory features of lead toxicity: normocytic anaemia with marked basophilic stippling, abnormal blood and urinary porphyrins, and elevated liver enzymes. Surprisingly, the patient had no electromyographic evidence of neurologic involvement. The patient was treated with intravenous EDTA-calcium followed by oral penicillamine. Urinary porphyrin and porphyrin precursor excretion followed an interesting pattern, correlating with the chelator used. This patient illustrates that extremely high blood lead level can be achieved through the oral route in an adult.
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Santosa, Budi. "Correlation between Hemoglobin Levels and the Reticulocyte and Basophilic Stippling Counts in the Lead – Exposed Residences of Tambaklorok, Semarang." Journal of Advanced Research in Dynamical and Control Systems 12, no. 5 (2020): 487–93. http://dx.doi.org/10.5373/jardcs/v12i5/20201965.
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Shanty Larasati, Maria Christina, Mangihut Rumiris, Mia Ratwita Andarsini, I. Dewa Gede Ugrasena та Bambang Permono. "ACQUIRED β−THALASSEMIA IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA (ALL)". INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 20, № 1 (2016): 58. http://dx.doi.org/10.24293/ijcpml.v20i1.444.
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Thalassemias are heterogeneous group of genetic disorders. β-thalassemia is existed due to impaired production of beta globins chains, which leads to a relative excess of alpha globin chains. The abnormalities of haemoglobin synthesis are usually inherited but may also arise as a secondary manifestation of another disease, most commonly haematological neoplasia. This article presenting two cases of acquired β-thalassemia in children with ALL focusing on the diagnosis and the possible relationship between the two haematological diseases. The first case is a four (4) year old boy with ALL-L1 type at maintenance phase of chemotherapy, he suffered from anaemia with Hb 8.0 g/dL, WBC 22,600/mm3 and platelets count of 200,000/mm3, peripheral blood smear revealed anisocytosis, polychromes, hypochromia, basophilic stippling, and normoblastocytes. The result of Hb electrophoresis of Hb A of 54.9%, Hb F of 29.4%, Hb E of 13.4% and Hb A2 of 2.3%. The patient was diagnosed as ALL-L1 type and β-thalassemia. The second case, is a 13 year old girl with remission ALL-L1 type after chemotherapy, she suffered from anaemia with Hb 6.7 g/dL, WBC 12,400/mm3, platelet count was 200,000/mm3, and peripheral blood smear obtained anisocytosis, hypochromia, normoblastocytes, myelocytes and basophilic stippling. The result of Hb electrophoresis are: Hb F 0.41%, Hb A1c 0.78%, Hb A2 2.95% with the conclusion of a β-thalassemia trait, this patient was diagnosed with ALL-L1 type remission + β-thalassemia trait. The case reviewers assume that acquired β-thalassemia which happened in those patients were the altered expression of globin chain which mechanism for this syndrome might be the acquisition of a mutation that affects RNA or proteins involved in β-globin gene regulation and resulting the reduction of the (α/β)-globin biosynthetic ratios, or/and associated with chemotherapy-inducement.
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Irawati, Yana, Haryoto Kusnoputranto, Umar Fahmi Achmadi, et al. "Blood lead levels and lead toxicity in children aged 1-5 years of Cinangka Village, Bogor Regency." PLOS ONE 17, no. 2 (2022): e0264209. http://dx.doi.org/10.1371/journal.pone.0264209.
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Lead is one of ten hazardous chemicals of public health concern and is used in more than 900 occupations, including the battery, smelting, and mining industries. Lead toxicity accounts for 1.5% (900,000) of deaths annually in the world. In Indonesia, reports of high Blood Lead Level (BLL) were associated with residency in Used Lead Acid Battery (ULAB) recycling sites. The present study aims to investigate the BLL and the evidence of lead toxicity of children living in an ULAB recycling site in Bogor Regency, Indonesia. A cross-sectional study involving 128 children aged 1–5 years was conducted in September-October 2019. The socio-economic factors, BLL, nutritional status, and hematological parameters, were evaluated. Data were analyzed by univariate and bivariate using the Chi-Square test. Socio-economic factors revealed only 2.3% children have pica and 10.9% children have hand-to-mouth habits. Majority of parents had low income, education, and have stayed in the village for years. Analysis on BLL revealed that 69.5% children had BLL of >10 μg/dL, 25% had abnormal BMI, 23.4% had underweight, 53.9% had stunting, 33.6% had anemia, and 22.6% had basophilic stippling. The average BLL and hemoglobin levels of respondents were 17.03 μg/dL and 11.48 g/dL, respectively. Bivariate analysis revealed that children with high BLL had double risk of having underweight and protected from stunting. Analysis on the association between BLL and BMI for age revealed a higher risk to have abnormal BMI. The high BLL also had 1.017 times risk of developing anemia, and almost doubled risk of having basophilic stippling, although they were not statistically significant. In conclusion, the high BLL of children living in the ULAB recycling indicates that lead exposure as well as lead toxicity are still occurring in Cinangka Village, and alerts to the need for a systematic action to mitigate the exposure.
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Muller, Halima, Simon Regard, Nicole Petriccioli, and Omar Kherad. "Traditional medicine: a rare cause of lead poisoning in Western countries." F1000Research 2 (November 19, 2013): 250. http://dx.doi.org/10.12688/f1000research.2-250.v1.
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A 42-year-old man from Bhutan was admitted to the emergency department with a 5-day history of abdominal pain, nausea and vomiting. Enhanced abdominal CT scan was found negative, however laboratory tests showed hemolytic anemia and basophilic stippling which are often seen in lead and heavy metal poisoning. Additional tests revealed a high level of lead in blood and urine. The patient was administered a chelator treatment with rapid improvement of the symptoms. A detailed interview revealed that the patient had been taking daily Bhutanese traditional medicines to treat a Bell’s palsy from which he had been suffering for a few months. The analysis of these medicines confirmed the presence of a high level of lead.
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Suleman, Fatima, Karima Shoukat, Ainan Arshad, Nadeem Ullah Khan, and Usman Sheikh. "Lead encephalopathy in an adult opioid abuser." BMJ Case Reports 14, no. 9 (2021): e240977. http://dx.doi.org/10.1136/bcr-2020-240977.
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A 38-year-old man presented at the emergency department with abdominal pain, vomiting, generalised weakness and altered consciousness. He had been ingesting opioids for over 5 years and had several past hospital admissions for abdominal pain. His investigations showed deranged liver function tests, anaemia and basophilic stippling on the peripheral blood smear. Further investigations revealed a significant increase in the serum lead level. We started chelation with peroral penicillamine 250 mg every 6 hours for 2 days and switched to intramuscular dimercaprol 4 mg/kg every 12 hours and intravenous calcium ethylenediamine tetraacetic acid 50 mg/kg in two divided doses daily for the next 5 days. We then discharged him home; he had become clinically stable by that time. We repeated his lead level and followed him up in the clinic. In this report, we emphasise the consideration of lead toxicity in opioid abusers and bring to attention a rare way of lead chelation in resource-limited settings.
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Tsai, Ming-Ta, Shi-Yu Huang, and Shih-Yu Cheng. "Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain." Case Reports in Emergency Medicine 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/9050713.
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Lead poisoning (LP) is less commonly encountered in emergency departments (ED). However, lead exposure still occurs, and new sources of poisoning have emerged. LP often goes unrecognized due to a low index of suspicion and nonspecific symptoms. We present a case of a 48-year-old man who had recurring abdominal pain with anemia that was misdiagnosed. His condition was initially diagnosed as nonspecific abdominal pain and acute porphyria. Acute porphyria-like symptoms with a positive urine porphyrin test result led to the misdiagnosis; testing for heme precursors in urine is the key to the differential diagnosis between LP and acute porphyria. The final definitive diagnosis of lead toxicity was confirmed based on high blood lead levels after detailed medical history taking. The lead poisoning was caused by traditional Chinese herbal pills. The abdominal pain disappeared after a course of chelating treatment. The triad for the diagnosis of lead poisoning should be a history of medicine intake, anemia with basophilic stippling, and recurrent abdominal pain.
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Patwardhan, Ameya, Nalini Atchayaram, Jitender Saini, et al. "Lead Encephalopathy with Distinctive Brain Magnetic Resonance Imaging Findings." Neurology India 69, no. 5 (2021): 1421–23. http://dx.doi.org/10.4103/0028-3886.329588.
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Lead poisoning is a multisystem disorder, more commonly affecting children. Occupational exposure, traditional medicines, and contaminated alcohol have been associated with lead encephalopathy in adults. Herein, we report a patient of lead toxicity presenting to the emergency services as acute encephalopathy with symptomatic hyponatremia and chronic recurrent abdominal colic and vomiting. This 50-year-old battery mechanic had multisystem involvement with anemia, basophilic stippling, lead line on the gums, and chronic hypertension. The blood lead level was more than 65 mcg/dL. Computed tomography of the brain showed intracranial calcifications and the MRI brain showed bilateral symmetric involvement of the thalamus, basal ganglia, brainstem, and external capsule. His sensorium improved rapidly after the correction of hyponatremia, however, apathy and psychomotor slowing persisted. This case highlights the importance of recognizing clinical markers and characteristic imaging findings, which can provide clues to an early diagnosis of this otherwise rare clinical condition, and prompt chelation therapy and avoid further lead exposure.
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Fermo, Elisa, Anna Marcello, Paola Bianchi, et al. "Pyrimidine 5′ Nucleotidase Deficiency: Clinical and Molecular Characterization of Two New Italian Patients." Blood 106, no. 11 (2005): 3711. http://dx.doi.org/10.1182/blood.v106.11.3711.3711.
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Abstract Hereditary pyrimidine 5′ nucleotidase deficiency (P5′N) is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non-spherocytic hemolytic anemia. The disorder is characterized by mild-to-moderate hemolytic anemia associated with reticulocytosis and hyperbilirubinemia and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. P5′N-1 gene is localized on 7p15-p14; eighteen mutations have been so far identified in 27 unrelated families, 6 of them of Italian origin. The aim of this study is to describe the hematological, biochemical and molecular characteristics of two new Italian patients affected by P5′N deficiency. Case1: The propositus was a 37 yrs old woman of Northern Italian origin affected by chronic hemolytic anemia with Hb levels ranging from 8.2 to 10.5 g/dL. At the time of the study Hb was 8.4 g/dL, reticulocytes 300x109/L, unconjugated bilirubin 3.2 mg/dL. Peripheral blood smear examination showed basophilic stippling and purines/pyrimidines ratio (OD260/280) was decreased (1, ref. values 1.4 – 2.98). P5′N activity, measured by capillary electrophoresis, was undetectable. Molecular analysis of P5′N-1 gene showed the presence of a new homozygous deletion of two bp (ag) at the splice junction between intron 7 and exon 8, which probably results in a splicing alteration and in the absence of a functional protein. Case2: The propositus, a 37 yrs old woman of Northern Italian origin carrying the hemoglobin variant HbD Punjab, had an history of chronic hemolytic anemia since childhood; at the age of 14 yrs splenectomy and colecystectomy were performed. The patient needed blood transfusions because of exacerbation of anemia (Hb 4.7g/dL) during parvovirus B19 infection. Iron status parameters were increased requiring desferrioxamine treatment. At the time of the study Hb was 9.3 g/dL, reticulocytes 752x109/L, unconjugated bilirubin 13.3 mg/dL. Serum ferritin was 1980 mg/mL and transferrin saturation 115%. The propositus was found to be homozygous for Gilbert’s syndrome and heterozygous for mutation H63D of HFE gene. Basophilic stippling (6%) was observed in peripheral blood smear. Pur/pyr ratio was 0.8 and residual P5′N activity was 40% of normal. Complete sequencing of P5′N-1 gene showed the presence of the frameshift mutation ins GG710-711, already described in Italian and Turkish patients, and the new in-frame aminoacidic deletion of Gln 143.
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Tiwari Shastri, Rupali, and N. R. Shetty. "AN INTERESTING CASE OF LEAD ENCEPHALOPATHY SECONDARY TO USE OF AYURVEDIC MEDICINE." International Journal of Advanced Research 10, no. 08 (2022): 404–6. http://dx.doi.org/10.21474/ijar01/15193.
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Ayurvedic medicine consists of herbs that may be intentionally combined with metals, such as lead, mercury, iron, and zinc. (1)These types of medicine are assumed by patients to be safe but unsupervised use can lead to serious health complications. This case illustrates how lead toxicity, which often presents with vague, nonspecific symptoms, can be missed and difficult to diagnose if the exposure to herbal supplements is not recognised. Here authors describe one case of lead encephalopathy as a result of long-term ayurvedic medication intake. This case illustrates a 72year old female presented with altered sensorium, seizure ,weight loss and abdominal pain . Her MRI brain was normal and EEG was suggestive of mild diffuse encephalopathy She was found to be anemic her peripheral smear demonstrated basophilic stippling hence blood lead levels were sent they were found to be very high. Her Ayurvedic medicine sent for analysis found it contained potentially harmful levels of lead. She responded to chelation therapy with oral succimer with complete resolution of clinical symptoms and anemia.
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Martin, Ana Paula, Patricia Martha Gargallo, Irma Margarita Bragos, Alejandro Abbate, Mara Jorgelina Ojeda, and Verónica Susana Montero. "Hemoglobin Agenogi in Argentina: Case Report." Blood 120, no. 21 (2012): 4776. http://dx.doi.org/10.1182/blood.v120.21.4776.4776.
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Abstract Abstract 4776 Hb Agenogi [b90(F6)Glu–>Lys], a beta chain variant was detected in a 44-years-old female patient of italian ancestry. She showed a hypochromic microcytic anemia and was treated as ferropenic anemia since she was 27 years old. The complete cell blood count revealed the following results: RBC: 4.01× 1012/L, PCV:30.9%, Hb:10.4 g/dl, MCV: 77fl, RDW 13.5%, MCH: 25.9 pg, MCHC:33.7%; reticulocytes: 0.6% and the peripheral blood smear showed no basophilic stippling. Serum vitamin B12, folate, iron, transferrin, transferrin saturation and ferritin were normal. The electrophoresis performed on agarose (alkaline pH) revealed a band of 44.5% with a mobility between Hb C and S. The unstable hemoglobin test was positive and the P50 was 31.3 mmHg (NR: 24 –28 mm Hg). This slow-moving hemoglobin, mild unstable and with decreased oxygen affinity was further characterized by sequencing of the amplified DNA, showing the substitution of glutamic acid (GAG) to lysine (AAG) at position 90 of the β globin chain This mutation has been described in only nine families, this is the second affected case in Argentina. Disclosures: No relevant conflicts of interest to declare.
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Balta, Gunay, Fatma Gumruk, Nurten Akarsu, Aytemiz Gurgey, and Cigdem Altay. "Molecular characterization of Turkish patients with pyrimidine 5′ nucleotidase-I deficiency." Blood 102, no. 5 (2003): 1900–1903. http://dx.doi.org/10.1182/blood-2003-02-0628.
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Abstract Pyrimidine 5′ nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologies of P5N-I deficiency in a total of 6 Turkish patients from 4 unrelated families of consanguineous marriages. Mutation analysis in the P5N-I gene led to the identification of 3 novel mutations in these patients. In 4 patients from 2 families, a homozygous insertion of double G at position 743 was detected in exon 9 (743-744insGG), leading to premature termination of translation 23 bp downstream. In one family, a homozygous T to G transition at position 543 (543T>G) in exon 8 resulted in the replacement of tyrosine (Tyr) with a stop codon (Tyr181Stop). In another family, a homozygous insertion of a single A in exon 7 (384-385insA) created a stop signal at the codon nearby. In all families, the parents were heterozygous for the relevant mutations. None of these changes was detected in 200 chromosomes from a healthy Turkish population. These mutations were not correlated with any particular phenotype.
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Blutreich, Ahna M., Peihong Shu, Jeremy S. Bragdon, Paul J. Kurtin, James D. Hoyer, and Gungor Karayalcin. "Ten Year-Old Male with Hemoglobin Lufkin/Beta-Zero Thalassemia Compound Heterozygote Who Exhibited Beta-Thalassemia Major Characteristics." Blood 106, no. 11 (2005): 3815. http://dx.doi.org/10.1182/blood.v106.11.3815.3815.
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Abstract Hemoglobin Lufkin is a rare and mildly unstable hemoglobin variant with increased oxygen affinity. Since 1977, two cases of hemoglobin Lufkin trait and one hemoglobin Lufkin/hemoglobin S have been described. This report is the first case of hemoglobin Lufkin/beta-zero thalassemia in a 10 year-old Caucasian male of Irish/Italian/German background. The patient presented with jaundice, splenomegaly and thalassemia major facies. On blood smear examination, RBC morphology showed hypochromia, microcytosis, many target cells, some spherocytes and basophilic stippling of RBC’s. On both alkaline hemoglobin (Hb) electrophoresis and isoelectric focusing (IEF) there was an absence of Hb A with a predominant band slightly anodal to the Hb A position. Hb A2 (4.8%)and Hb F (5.3%) were elevated as measured by high performance liquid chromatography. The heat unstable Hb test was abnormal. DNA sequencing of the beta globin gene confirmed a GCC to GAC mutation at codon 29 (gly to asp) consistent with Hb Lufkin. DNA sequence analysis also revealed a beta-zero thalassemia mutation, IVS-1-1, (G to A). The mother’s sample also showed the same beta-thalassemia mutation. Neither hemoglobin Lufkin nor beta-thalassemia were identified in the father; further studies are being done.
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Cora, Michelle C., William Gwinn, Ralph Wilson, et al. "A Black Cohosh Extract Causes Hematologic and Biochemical Changes Consistent with a Functional Cobalamin Deficiency in Female B6C3F1/N Mice." Toxicologic Pathology 45, no. 5 (2017): 614–23. http://dx.doi.org/10.1177/0192623317714343.
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Black cohosh rhizome, available as a dietary supplement, is most commonly marketed as a remedy for dysmenorrhea and menopausal symptoms. A previous subchronic toxicity study of black cohosh dried ethanolic extract (BCE) in female mice revealed a dose-dependent ineffective erythropoiesis with a macrocytosis consistent with the condition known as megaloblastic anemia. The purpose of this study was to investigate potential mechanisms by which BCE induces these particular hematological changes. B6C3F1/N female mice (32/group) were exposed by gavage to vehicle or 1,000 mg/kg BCE for 92 days. Blood samples were analyzed for hematology, renal and hepatic clinical chemistry, serum folate and cobalamin, red blood cell (RBC) folate, and plasma homocysteine and methylmalonic acid (MMA). Folate levels were measured in liver and kidney. Hematological changes included decreased RBC count; increased mean corpuscular volume; and decreased reticulocyte, white blood cell, neutrophil, and lymphocyte counts. Blood smear evaluation revealed increased Howell–Jolly bodies and occasional basophilic stippling in treated animals. Plasma homocysteine and MMA concentrations were increased in treated animals. Under the conditions of our study, BCE administration caused hematological and clinical chemistry changes consistent with a functional cobalamin, and possibly folate, deficiency. Further studies are needed to elucidate the mechanism by which BCE causes increases in homocysteine and MMA.
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Corrons, Joan-Lluis Vives, and Barbara J. Bain. "Haemoglobin Bristol-Alesha in a child with non-spherocytic severe haemolytic anaemia and marked anisochromic poikilocytosis with basophilic stippling and amorphous intracellular content." Blood Cells, Molecules, and Diseases 94 (May 2022): 102652. http://dx.doi.org/10.1016/j.bcmd.2022.102652.
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Crimmins, Jennifer M., Devin Russell, Teresa Danielle Samulski, Carolyn M. Ziemer, and Paul B. Googe. "Pancreatic Panniculitis—Not Just a Skin Disease." AJSP: Reviews and Reports 25, no. 2 (2020): 94–96. http://dx.doi.org/10.1097/pcr.0000000000000361.
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Abstract Pancreatic panniculitis is a rare sequela of pancreatic disease classically presenting with tender, erythematous subcutaneous nodules involving the lower extremities. Rarer associations include involvement of the marrow, intra-abdominal fat, intrathoracic fat, and the clinical finding of joint pain. We present the case of a patient who presented with a 1-year history of intermittent nausea, bloating, and anorexia with computed tomography scan findings of a complex pancreatic cystic lesion, omental findings concerning for carcinomatosis, and ascites. She developed tender, erythematous, and hyperpigmented subcutaneous nodules on bilateral lower extremities that were first noted on admission. Pancreatic biopsy revealed pancreatic pseudocyst and laboratory findings on admission were consistent with pancreatitis and pancreatic ascites. Laparoscopic omental biopsies revealed multifocal, nodular fat necrosis and associated inflammation with no carcinoma identified. Histologically similar to the omental biopsies, a punch biopsy of skin revealed lobular fat necrosis, inflammation, and basophilic stippling by calcium consistent with pancreatic panniculitis. Given the similar histologic findings in the skin and omentum in the setting of pancreatic ascites, her omental findings were attributed to pancreatic panniculitis. This case highlights the importance of recognizing that pancreatic panniculitis can present as a systemic disorder. We highlight the laparoscopic, dermatologic, laboratory, and biopsy findings of pancreatic panniculitis to demonstrate that the pathologic findings are similar in the various organs involved.
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D'souza, HS, G. Menezes, SA Dsouza, and T. Venkatesh. "Evaluation of Symptoms and Characteristic Features of Lead Poisoning and their Assistance in Clinical Decision Making." International Journal of Clinical Therapeutics and Diagnosis 3, no. 5 (2015): 97–99. https://doi.org/10.19070/2332-2926-1500020.
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Aim of the present study is to evaluate the symptoms and characteristics features in lead based industrial workers and accessing their reliability in clinical decision making and diagnosing lead toxicity. Study involves 15 industrial workers (exposed) and 15 non-exposed individuals, matched for age, sex and nationality selected from Bangalore, India. Association of various symptoms and characteristic features in exposed and non-exposed groups were evaluated and their association with high blood lead levels was studied. Exposed individuals had significantly higher blood lead levels (114.13 ± 39.95 μg/dl) than non-exposed (5.47 ± 2.00 μg/dl). Corresponding with increase in lead levels, a decrease in hemoglobin and increase in zinc protoporphyrin levels were seen in all exposed individuals. Specific symptoms of lead poisoning such as wrist drop was seen in 33.3% and blue line on gums and basophilic stippling was seen in 26.7% of lead exposed industrial workers. Though the reported general symptoms of lead poisoning like weakness, abdominal colic, constipation, insomnia, dizziness, generalized body ache, loss of appetite, anxiety were strongly associated with high blood lead levels, similar symptoms were also seen in non-exposed individuals. Lead exposed industrial workers had higher prevalence of symptoms observed. Proper diagnosis of lead poisoning based only on symptoms may not be possible. Despite high blood lead levels, the specific symptoms of lead poisoning are not apparent, hence many cases of lead poisoning remain undiagnosed and untreated or might receive only symptomatic treatment. Estimating blood lead levels and correlating with specific symptoms may help diagnosing patients with lead poisoning and subsequent intervention.
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Pranjić, Nurka, Hamza Mujagić, Mahmud Nurkić, Jasenko Karamehić, and Slobodan Pavlović. "Assessment of health effects in workers at gasoline station." Bosnian Journal of Basic Medical Sciences 2, no. 1-2 (2002): 35–45. http://dx.doi.org/10.17305/bjbms.2002.3579.
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The aim of this study was to made assessment of health effects in 37 workers exposed to gasoline, and its constituents at gasoline stations between 1985 and 1996. Thirty-seven persons who had been exposed to gasoline for more than five years were examined. The evaluation included a medical / occupational history, haematological and biochemical examination, a physical exam, standardized psychological tests, and ultrasound examination of kidneys and liver. The groups were identical in other common parameters including age, gender (all men), and level of education (P<0. 05). The data were compared to two control groups: 61 healthy non-exposed controls and 25 workers at gasoline stations exposed to organic lead for only nine months. Peripheral smear revealed basophilic stippling and reticulocytosis. We found in chronic exposed gasoline workershaematological disorders: mild leukocytosis (7 of 37), lymphocytosis (20 of 37), mild lymhocytopenia (3 of 37), and decrease of red blood cells count (11 of 37). Results indicated that they have suffered from liver disorders: lipoid degeneration of liver (14 of 37), chronic functional damages of liver (3 of 37), cirrhosis (1 of 37). Ultrasound examination indicated chronic kidney damages (8 of 37). These results significantly differed from those of controls (P< 0.05). In 13 out of 37 workers at gasoline stations exposed to gasoline for more than 5 years the symptom of depression and decreased reaction time and motor abilities were identified. The summary of diseases of workers exposed to organic lead and gasoline are discussed.
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Prastiya, Ragil Angga, Trilas Sardjito, Aris Maulana Abdillah, et al. "Impact of urban lead pollution on the hematology and reproductive histopathology of stray cats in Indonesian megacities." Journal of Animal Behaviour and Biometeorology 12, no. 4 (2024): 2024028. https://doi.org/10.31893/jabb.2024028.
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Lead pollution in urban environments has become a significant concern owing to its potential impact on the health of wildlife, including cats. This study aimed to evaluate the effects of lead exposure on the hematological parameters and reproductive histopathology of stray cats in Jakarta and Surabaya. The toxicity of inhaled lead contamination is distributed throughout the body via the bloodstream, affecting the reproductive system through hormonal disruption by reducing hypothalamic function and through cytotoxicity by inducing reactive oxygen species. Bioindicators in the form of male wild cats were used as experimental animals and were selected through accidental sampling over a 24-h period, with at least five animals collected from each region. Blood samples were utilized for hematological analysis and blood lead concentration measurement, whereas testicular tissues were prepared for histopathological examination. Although the serum lead levels of the cats were within the safe limits set by the World Health Organization, several morphological abnormalities in the blood cells were noted, including basophilic stippling and the presence of clover-leaf cells, indicating the toxic effects of lead exposure. Additionally, histopathological analysis revealed seminiferous tubule degeneration and atrophy, which could affect reproductive function. These findings suggest that although lead exposure remains within tolerable limits, its implications for the reproductive health of stray cats warrant further attention. This study highlights the importance of monitoring lead pollution in urban areas and underscores the need for conservation measures to protect stray cat populations and their ecosystems.
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Marinaki, Anthony M., Emilia Escuredo, John A. Duley, et al. "Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency." Blood 97, no. 11 (2001): 3327–32. http://dx.doi.org/10.1182/blood.v97.11.3327.
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Pyrimidine 5′ nucleotidase (P5′N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Recently, a protein with P5′N-1 activity was analyzed and a provisional complementary DNA (cDNA) sequence published. This sequence was used to study 3 families with P5′N-1 deficiency. This approach generated a genomic DNA sequence that was used to search GenBank and identify the gene for P5′N-1. It is found on chromosome 7, consists of 10 exons with alternative splicing of exon 2, and produces proteins 286 and 297 amino acids long. Three homozygous mutations were identified in this gene in 4 subjects with P5′N-1 deficiency: codon 98 GAT→GTT, Asp→Val (linked to a silent polymorphism codon 92, TAC→TAT), codon 177, CAA→TAA, Gln→termination, and IVS9-1, G→T. The latter mutation results in the loss of exon 9 (201 bp) from the cDNA. None of these mutations was found in 100 normal controls. The DNA analysis was complicated by P5′N-1 pseudogenes found on chromosomes 4 and 7. This study is the first description of the structure and location of the P5′N-1 gene, and 3 mutations have been identified in affected patients from separate kindreds.
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Molina, Angel, Santiago Alférez, Laura Boldú, Andrea Acevedo, José Rodellar, and Anna Merino. "Sequential classification system for recognition of malaria infection using peripheral blood cell images." Journal of Clinical Pathology 73, no. 10 (2020): 665–70. http://dx.doi.org/10.1136/jclinpath-2019-206419.
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AimsMorphological recognition of red blood cells infected with malaria parasites is an important task in the laboratory practice. Nowadays, there is a lack of specific automated systems able to differentiate malaria with respect to other red blood cell inclusions. This study aims to develop a machine learning approach able to discriminate parasitised erythrocytes not only from normal, but also from other erythrocyte inclusions, such as Howell-Jolly and Pappenheimer bodies, basophilic stippling as well as platelets overlying red blood cells.MethodsA total of 15 660 erythrocyte images from 87 smears were segmented using histogram thresholding and watershed techniques, which allowed the extraction of 2852 colour and texture features. Dataset was split into a training and assessment sets. Training set was used to develop the whole system, in which several classification approaches were compared with obtain the most accurate recognition. Afterwards, the recognition system was evaluated with the assessment set, performing two steps: (1) classifying each individual cell image to assess the system’s recognition ability and (2) analysing whole smears to obtain a malaria infection diagnosis.ResultsThe selection of the best classification approach resulted in a final sequential system with an accuracy of 97.7% for the six groups of red blood cell inclusions. The ability of the system to detect patients infected with malaria showed a sensitivity and specificity of 100% and 90%, respectively.ConclusionsThe proposed method achieves a high diagnostic performance in the recognition of red blood cell infected with malaria, along with other frequent erythrocyte inclusions.
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Boroumand-Noughabi, Samaneh, Mohammad Reza Keramati, Zahra Sadrzadeh Sadrzadeh,, Zohreh Asadi, and Shirin Taraz Jamshidi. "Extra ordinary high blood lead levels in Mashhad,Iran: a one-year study in a referral center." Physiology and Pharmacology 25, no. 2 (2021): 116–24. http://dx.doi.org/10.32598/ppj.25.2.40.
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Introduction: Lead is a heavy metal with vast usage in the industry. Lead toxicity affects any organ in the body. It causes various clinical presentations, which leads to diagnostic complexity. Regarding recent increased observation of cases with lead toxicity in our center, we aimed to evaluate the frequencies of lead toxicity in patients referred to Imam-Reza Hospital’s laboratory and find a possible relationship between the blood lead level (BLL) and hematological and biochemical tests. Methods: From 2016 to 2017, the patients referred to Imam-Reza hospital’s laboratory to detect BLL enrolled in the study. Among them, 254 adult cases with BLLs≥10 μg/dl were selected. Complete blood counts and peripheral blood smear were done. Other lab data were extracted from hospital files. Results: The mean BLL of 1649 participants was 59.11±116.25 μg/dl, ranging from 0 to 1580. Sixty nine percent of them had lead toxicity. Eighty-one percent (n=1341) of patients were males and 18.7% (n=308) were females. In 254 selected cases, the mean BLL was 138.17±189.98 μg/dl. There were significant inverse correlations between BLL and red blood cell counts, hemoglobin, mean cell hemoglobin, total iron-binding capacity, target shape and basophilic stippling, as well as positive correlations between BLL and white blood cell counts, red cell distribution width, neutrophil counts and iron. Conclusion: Lead toxicity seems to be more frequent than it is expected. Patients with unexplained anemia with increased iron and decreased total iron-binding capacity are better to be evaluated for BLL.
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Marisa, Marisa, Def Primal, and Betti Rosita. "The Analysis of Blood Lead (Plumbum, Pb) Levels and Its Erythrocyte Morphology in Active Smokers." Sainstek : Jurnal Sains dan Teknologi 16, no. 2 (2024): 51. https://doi.org/10.31958/js.v16i2.12565.
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Cigarettes are categorized as addictive substances with the highest toxicity to body’s tissues, resulting the hazardous complications in individuals and public health. It contains dangerous chemicals substances, such as carbon monoxide, nicotine, tar, ammonia, arsenic, cyanide, and lead (Pb). The main effect of these exposure, especially for the lead, is the intoxication of pulmonary tissues and decreasing of alveolar function through inhalation processes of smokers. It was reported at least 90% of these chemicals absorbed into the blood-streams and directly binds to erythrocyte and straightway disturbing the process of hemoglobin synthesis. This study analyzed the levels of lead (Pb) and erythrocyte morphology in active smokers among Motor Vehicle Weighing Implementation division (UPPKB) employees, in Kupang City. An analytic observational research method was obtained with cross-sectional design. We involved 15 respondents aged 20-40 years old with purposive sampling technique. Thereafter, beside the samples anamnesis had been examined, the blood sample were collected to analyze the erythrocyte morphology identifications with blood- smear analysis and the lead measurement with Atomic Absorption Spectrophotometer (AAS). From the research findings, lead (Pb) levels in active smoker’s blood were identified have an abnormal level above threshold of 14 samples (93%), with the highest one was 58μg/dL. On erythrocyte morphology examination, it reveals most of the erythrocytes' size was macrocytic (80%), deformities (80%), basophilic stippling (20%), while all erythrocytes showed normochromic color. We believed that lead accumulation in blood positively affect the erythrocyte quality and its function, and the prohibition of the cigarette circumgyration should be emphasized.
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Budkar, L. N., V. B. Gurvich, Elena A. Karpova, et al. "CARDIOVASCULAR TOXICITY IN COPPER PRODUCTION WORKERS EXPOSED TO HEAVY METALS." Hygiene and sanitation 99, no. 1 (2020): 37–44. http://dx.doi.org/10.33029/0016-9900-2020-99-1-37-44.
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Introduction. Cardiovascular diseases (CVD) are a leading cause of morbidity and mortality. The role of occupational hazards in the CVD prevalence remains to be clarified. Material and methods. Here we report the results of the study of risk factors and CVD prevalence in 590 workers at the largest copper production plants in the Sverdlovsk region, exposed to heavy metals in the workplace. The workers` health information was obtained during a regular medical examination in 2018. The lead concentration increase to 1.3-1.8 occupational exposure limits was registered in the working areas of the concentrating mill (for bunkerman) and copper smelting workshops (transporter, smelter, converter, non-ferrous metal spreader, repairman, electrician). Results. We studied the exposure indices (Pb level in blood), the response markers (reticulocyte count, erythrocytes basophilic stippling, coproporphyrin, and aminolevulinic acid in the urine), and their correlation to a working tenure. Based on this analysis, we attributed CVD risk factors and cardiovascular diseases to the occupation, in order to potentially modify some of those risk factors and ultimately inform the risk management. Hypertension occurred in 57% of the examined workers, which is higher than in the general population. We calculated relative risk, confidence intervals and attributable fraction. We developed a predictive mathematical model (stepwise logistic regression) to predict high-stage hypertension and identified the risk factors associated with its development. Conclusions. Correlation analysis revealed direct correlations between stages 2 and 3 hypertension and a working tenure over 20 years. We think it’s reasonable to consider the documented CVDs as related to the toxic effects of heavy metals (lead and cadmium).
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Chiarelli, Laurent, Andrea Mattevi, Alessandro Galizzi, et al. "Functional Analysis of Two Mutants of Pyrimidine 5′ Nucleotidase Causing Nonspherocytic Hemolytic Anemia." Blood 104, no. 11 (2004): 1592. http://dx.doi.org/10.1182/blood.v104.11.1592.1592.
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Abstract Pyrimidine 5′-nucleotidase type-I (P5′N-1) catalyzes the dephosphorylation of UMP and CMP to their respective nucleosides. In red blood cells, the enzyme has a major role in the catabolism of nucleotides formed from RNA degradation. P5′N-1 possesses also phospho-transferase activity suggesting an additional role of the enzyme in nucleotide metabolism. P5′N-1 deficiency is an autosomal recessive disorder characterized by hemolytic nonspherocytic anemia, heavy basophilic stippling in the peripheral blood smear, and accumulation of pyrimidine nucleotides within the erythrocytes. P5′N-1 deficiency is the third most common RBC enzymopathy causing hemolysis after G6PD and PK deficiency. Fourteen different mutations have been identified at the DNA level to date including four missense mutations. To increase our understanding on molecular basis of the P5′N-1 deficiency, after mutants N190S and G241R (Chiarelli et al, Blood 2003, abstract; Chiarelli et al, The Hematology Journal 2004, abstract), we have undertaken the biochemical characterization of D98V and L142P enzymes, identified respectively in a Norwegian family and in Japanese patients. The proteins were produced in E. coli cells as recombinant forms, and purified to homogeneity. The L142P protein showed a drastic reduction in the thermal stability (t1/2 at 37°C about 6 min compared to a fully stable wild-type), and kinetic properties slightly altered (kcat values nearly halved and Km 3–5 times higher). D98V exhibited reduced heat stability (t1/2 at 37° about 25 min) and catalytic efficiency turned especially versus UMP (about 25 times) owing the increased Km values. Thus, the decreased activity observed in Japanese patients homozygous for the L142P mutation is essentially due to lowered enzyme levels caused by protein instability, whereas the D98V mutation of Norwegian patients alters both stability and catalytic efficiency. We suggest that substitution D98V affects an amino acid residue involved in substrates binding site.
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De Falco, Luigia, Lucia De Franceschi, Frank Borgese, et al. "BAND 3CEINGE (Gly796Arg) Mutation Causes Dehydrated Hereditary Stomatocytosis (DHS) with Dyserythropoietic Phenotype." Blood 112, no. 11 (2008): 2874. http://dx.doi.org/10.1182/blood.v112.11.2874.2874.
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Abstract Stomatocytosis is an inherited autosomal dominant hemolytic anemia and includes overhydrated hereditary stomatocytosis (OHS), dehydrated hereditary stomatocytosis (DHS), hereditary cryohydrocytosis (CHC) and familial pseudohyperkalemia (FP). Here, we report a novel variant of hereditary stomatocytosis due to a de-novo band 3 mutation due to G&gt;A transition at nucleotide 2500 in exon 17 (p. G796R, band3CEINGE) associated with dyserythropoietic phenotype. This 43-years-old Caucasian female (II-2) with unrelated parents was admitted to our hospital for mild anemia evaluation. The patient was in good health until 7 years when she frequently experienced asthenia. Anemia was first recognized at the age of eighth years with presence of jaundice and hyperchromic urine, but she had never received blood transfusions. We observed a mild hypochromic macrocytic anemia with a hemoglobin level of 11.5 g/dL, a mean cell volume (MCV) of 110 fL, and a mean hemoglobin concentration (MCH) of 36.1 pg, the reticulocyte count was 64 × 103/μL. There was a typical hemolytic features: high levels of indirect bilirubin (3.48 mg/dL) and lactate dehydrogenase ( 567 U/l, v.n. 240– 480 U/l ) with negativity at direct and indirect Coomb’s test. Spleen was enlarged and ultrasonography detected 15 cm of longitudinal size. She was cholecystectomized at the age of 14 years because of numerous symptomatic small stones. Serum iron, soluble transferrin receptor, serum ferritin and transferrin saturation levels were all increased, while the transferrin was in the normal range.Other blood tests including osmotic fragility with incubated and fresh erythrocytes, serum electrolytes, B12 and folate levels, erythrocyte enzyme levels, EMA test and Pink test were normal. Peripheral blood smear showed anisopoikilocytosis with rare stomatocytes and no spherocytes. Bone marrow aspirate showed remarkable dyserythropoiesis with increased number of erythroblasts and binucleate erythroblasts, basophilic erythroblasts with alterations, irregular nuclei maturation, intererythroblastic bridges and erythroblasts with basophilic stippling. She received since the age of 14 yrs a diagnosis for congenital dyserythropoietic anemia type I. Patients red cells showed increase Na+ content and decrease K+ content; reduced Na-K pump activity and increased Na-H exchange, NKCC cotransport and KCC cotransport activities. We then functionally characterized band 3 CEINGE in Xenopus oocytes, showing that the mutated band 3 is converted from anion exchanger (Cl−, HCO3 −) function to unregulated cation pathway for Na+ and K+. The mutated band 3 was also associated with increased tyrosine phosphorylation pattern of some red cell membrane proteins. During erythropoiesis band 3 protein is the last cytoskeletal protein to appear, thus the dyserythropoietic phenotype may be related to a possible role of the mutated band 3 in perturbation of cytoskeleton assembly in the late stage of erythropoiesis, allowing us to conclude for a new variant of stomatocytosis with dyserythropoietic phenotype.
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Sreenivasan, Gayatri M., Raymund L. M. Yong, and Dan Holmes. "Chronic Aluminum Toxicity Due to Intravenous Substance Abuse Managed with Deferoxamine Chelation Therapy: Case Report." Blood 104, no. 11 (2004): 3695. http://dx.doi.org/10.1182/blood.v104.11.3695.3695.
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Abstract Aluminum toxicity first came to attention in the medical literature as a sequela of peritoneal or hemodialysis, where accumulation of aluminum in body tissues results from the use of aluminum-containing dialysate and phosphate binders. The most common clinical presentations of aluminum toxicity include anemia, bone disease, and a syndrome of encephalopathy known as the dialysis encephalopathy sydrome (DES). We present the unique case of a 42-year-old man who developed chronic aluminum toxicity from the intravenous injection of a methadone preparation intended for oral consumption. The methadone solution was concentrated for intravenous injection by heating in aluminum cookware. Experiments performed in our laboratory reproducing this technique, using weakly acidic solutions similar to popular drink mixes, confirmed that significant amounts of elemental aluminum can be leached from aluminum cookware when heated. The patient presented to medical attention with generalized seizures, profound cerebellar dysfunction, myoclonus, and speech apraxia, all of which are characteristic of DES. The peripheral blood film revealed bizarre red cell morphology, with clear features of iron deficiency and prominent coarse basophilic stippling, suggesting impaired iron utilization, which is at least one mechanism of aluminum related hematologic toxicity. A bone marrow biopsy demonstrated extensive osteosclerosis and myelosclerosis, compatible with significant metabolic bone disease. Subsequent investigations revealed a serum aluminum level of 7200 nmol/L, eighteen times the upper limit of normal (400 nmol/L). Chelation therapy with a continuous intravenous infusion of deferoxamine was started, and over a course of ten months the serum aluminum level was reduced to 2390 nmol/L with few side effects. The patient made a significant neurologic recovery and returned to life in the community. This is the first detailed account of the successful use of deferoxamine to chelate aluminum in a patient without dialysis-dependent renal insufficiency. This case also highlights heavy metal exposure as a diagnostic consideration in intravenous substance abusers presenting with multiorgan dysfunction, and the importance of performing a thorough inquiry into injection drug practices when evaluating these patients.
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Barella, Susanna, Ramon Simon-Lopez, Nicola Di Gaetano, and Renzo Galanello. "Beta Thalassemia Trait: How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging." Blood 120, no. 21 (2012): 5186. http://dx.doi.org/10.1182/blood.v120.21.5186.5186.
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Abstract Abstract 5186 Introduction: Beta Thalassemia (β-thalassemia) is one of the more common hemoglobinopathies worldwide, being the heterozygous variant, called Beta Thalassemia Trait, a benign variant, but important to diagnose, for genetic counseling, trying to avoid the homozygous variant, called major. Diagnostic of Beta Thalassemia Trait: Classic testing for β-thalassemia includes: hematologic testing of red blood cell indices, peripheral blood smear (prewsence of target cells and RBC with basophilic stippling, etc.), and qualitative and quantitative hemoglobin analysis. Have been proposed too Discriminant functions, like the one published many years ago, by England and Fraser. Objective: Recently have been developed new parameters and information in the new automated hematology analyzer called DxH8008™ from Beckman Coulter as @MSCV, @RSF, @MAF, @ LHD% and many morphological parameters for RBC and Reticulocytes calles Cell Population Data. All this parameters may be used to create flagging for laboratory use only (LUO) or Research use only (RUO). The purpose of this study is to investigate the possible use or utility of this new information for the screening/flagging of Beta Thalassemia Trait. Patient and Methods: We have collected 30 patients with Beta Thalassemia Trait. All of them were confirmed by red cell morphology, Hgb Electroforesis, cromatography in liquid phase in human whole blood for the determination of Hemoglobin A2, F, A1c, and identification of abnormal hemoglobins and DNA analysis (DNA Analysis by GAP-PCR). We have compared these patients with a control group (184 individuals) and with other anemias (see Table 1). Results: Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from the normals were: MCV (AUC 1. 000), MRV (AUC 0. 999), @MAF(AUC 0. 999), @MCNRET (AUC 0. 997), RDW (AUC 0. 957), HGB (AUC 0. 915), RBC(AUC 0. 912). Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from other anemias (excluding normals) were: RDW-SD (AUC 0. 937), DF Eng-Fra (AUC 0. 779), RDW (AUC 0. 766), RBC (AUC 0. 734) Disclosures: Simon-Lopez: Beckman Coulter: @LHD, @MAF, @RSF, @LHD, @MAF, @RSF Patents & Royalties, Employment. Di Gaetano:Instrumentation Laboratory spa: Work for a distributor of Beckman Coulter Instruments in Italy Other. Galanello:Ferrokin: Research Funding; Apopharma: Research Funding, Speakers Bureau; Novartis: Research Funding, Speakers Bureau.
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Devaux, Celine, Pierre Chagnon, Claude Belisle, Denis Soulieres та Lambert Busque. "Hemoglobin Ville-Marie: A New β-Globin Variant (del480C) Causing Oxydative Hemolysis." Blood 106, № 11 (2005): 3783. http://dx.doi.org/10.1182/blood.v106.11.3783.3783.
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Abstract Introduction: A 26 year old male patient was investigated at Maisonneuve-Rosemont Hospital (Montreal, Canada) for chronic hemolysis. The patient was known for many years to have chronic hemolysis of unknow etiology and splenomegaly. He had previously undergone cholecystectomy. There was no family history of hemolytic anemia. The investigation revealed a normal automated CBC but the blood smear showed polychromatophilia, basophilic stippling and a few degmacytes (bite cells). The serum chemistry analysis revealed an increased LDH and bilirubin and a decreased haptoglobin level. The search for Heinz body was positive after exposure to acetyl phenylhydrazine. Unstable hemoglobin was demonstrated using the isopropanol test, but the heat instability test was negative. The dosages of erythrocyte enzymes (G-6PD, pyruvate kinase, gluthation reductase and acethylcholinesterase) were normal. Hb HPLC analysis was done using a VARIANT II, Bio-Rad. Results demonstrated the presence of normal HbA and an abnormal Hb migrating as Hb Hope at a level of 24% of total hemoglobin. Methods and Results: Blood DNA sample was obtained to perform automated sequencing of the β-globin gene (HBB). The HBB gene was sequenced using primers designed to amplify coding sequences of the three exons, splice junctions, introns and the promoter region. Five samples (the patient and four controls) were analysed. Sequence were compared to the cDNA sequence of the HBB gene (NM_000518) and from the genomic sequence of the region (AC104389). In the case of the propositus, a 1 nucleotide deletion was detected at codon 142 (nucleotide 480 of GenBank entry NM_000518) in exon 3, causing a reading frameshift. This deletion (TGCCCTGGCC [C/del] ACAAGTATCA) was never detected before and eliminates the regular stop codon (TAA) at position 147. A new stop codon is therefore produced after the addition of 14 residues, identical to those observed in Hbs Saveme, Trento and TAK, all of which result from a similar reading frameshift secondary to a deletion. However, a threonine residu is present at position 142 in the case of the propositus. Conclusion: Hemoglobin Ville-Marie is an elongated C-terminal hemoglobin variant causing mild compensated hemolytic anemia with some degree of hemoglobin instability. Others analysis are being performed to better characterise this new hemoglobin variant, the results of which will be presented at the meeting.
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Agyemang, Veronica, Joseph K. Acquaye, Samuel B. E. Harrison, et al. "Blood Lead Levels among Blood Donors and High-Risk Occupational Groups in a Mining Area in Ghana: Implications for Blood Transfusion among Vulnerable Populations." Journal of Tropical Medicine 2020 (July 10, 2020): 1–8. http://dx.doi.org/10.1155/2020/6718985.
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Lead poisoning has been a major global health problem for decades, and blood transfusion has been suspected as a neglected potential source of lead exposure. Children and pregnant women are most vulnerable to the toxic effects of lead and over 40 percent of blood transfused in Ghana is given to children under 5 years. However, there is little data on the levels of lead in donor blood and the main sources of lead exposure in the Ghanaian population. This study compared blood lead levels (BLL) among selected occupations at risk of lead exposure with healthy blood donors in nonexposed occupations in a Ghanaian mining area. We enrolled 40 participants each from the following high-risk occupational groups: small scale miners, painters/sprayers, drivers/fuel station attendants, and auto-mechanics as well as 40 healthy blood donors (made up of teachers, traders, and office workers). One millilitre of blood was collected from each participant for determination of their BLL, haemoglobin concentration, and blood film morphology. A total of 200 participants made up of 186 (93%) males and 14 (7%) females were enrolled. The mean age of participants was 28.6 ± 8.2 years and their geometric mean (GM) BLL was 6.3 GSD 1.4 µg/dL [95% CI: 6.0 – 6.6]. Participants in high risk occupations had significantly higher GM BLL of 6.7 µg/dL [95% CI :6.4−7.0] compared to 5.0 µg/dL [95% CI: 4.4−5.7] for healthy blood donors [p < 0.001]. The prevalence of elevated BLL (≥5 µg/dL) among the entire study participants, high risk occupations and blood donors was 84.5%, 89.4% and 65% respectively. There was significant association between elevated BLLs and working in an at-risk occupational group [aOR = 3.58, p = 0.014]. Haemoglobin concentration was not significantly associated with elevated BLLs. Basophilic stippling was not observed in any of the blood smears. Blood lead levels were high in blood donors and at-risk occupations in the study area and occupation was associated with elevated BLLs. It is important that measures to safeguard the integrity of donor blood go beyond screening for infectious diseases to include screening individuals in high-risk occupations for lead and other heavy metals to ensure that donor blood from such individuals is safe and does not pose potential danger to the health of vulnerable populations such as children and pregnant women.
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MYHRE, HELGE. "On Basophile Stippling of Erythrocytes in Sulphanilamide Anemia." Acta Medica Scandinavica 101, no. 2-3 (2009): 315–18. http://dx.doi.org/10.1111/j.0954-6820.1939.tb07791.x.
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Tunstall-Pedoe, Oliver, Josu de la Fuente, Phillip R. Bennett, Nicholas M. Fisk, Paresh Vyas, and Irene A. G. Roberts. "Trisomy 21 Expands the Megakaryocyte-Erythroid Progenitor Compartment in Human Fetal Liver-Implications for Down Syndrome AMKL." Blood 108, no. 11 (2006): 563. http://dx.doi.org/10.1182/blood.v108.11.563.563.
Full textAbstract:
Abstract Children with Down syndrome (DS) have a uniquely high frequency of acute megakaryoblastic leukemia (AMKL)- ~500-fold increased compared to children without trisomy 21 (T21). At least two genetic events are required but are not sufficient for DS-AMKL: T21 and N-terminal truncating mutations in the key megakaryocytic transcription factor GATA1. This tight association of T21 with GATA1 mutations and the development of AMKL in a narrow temporal window (fetal life-5yrs) makes DS-AMKL a highly informative model of multi-hit leukemogenesis in which the first steps occur in utero. However, the individual contributions of T21 and mutant GATA1 in the leukemogenesis are unclear. To specifically investigate the role of T21 in DS-AMKL and why leukemia-initiation is confined to fetal (or early post-natal) life we have studied fetal hemopoiesis in DS during the second and third trimester in 16 fetuses (gestational age 15–37 weeks) where an antenatal diagnosis of DS with T21 was made by amniotic fluid fetal cell karyotyping. Samples of fetal blood (n=13), fetal liver (n=9) and fetal bone marrow (n=8) were screened for mutations in the GATA1 gene genomic DNA by DHPLC or direct sequencing (sensitivity of detecting a GATA1 mutation is 1–5% by DHPLC). No GATA1 mutations were detected. This allowed us to study the impact of T21 independent of GATA1 mutation on fetal hemopoiesis. DS fetuses showed marked qualitative and quantitative abnormalities in hemopoiesis. While the total number of CD34+ cells in DS and normal fetal liver were comparable, DS fetuses had a striking increase in bi-potential megakaryocyte-erythroid progenitors (MEP; CD34+CD38+FcgloCD45RA+− 74.4% vs 27.0% of fetal liver CD34+/CD38+ cells. Peripheral blood from all DS fetuses studied compared to normal fetal blood samples showed dysmegakaryopoiesis (abnormally shaped and/or giant platelets and MK fragments), dyserythropoiesis (macrocytes, poikilocytes, basophilic stippling), increased numbers of blast cells and also had an increased percentage of MEPs − 40.3% vs 26.9%. By contrast, there was no difference in the number of MEP nor erythroid or MK lineage morphology in DS fetal bone marrow compared to normal fetal bone marrow. CD34+ cells from DS fetal liver and fetal blood expressed both fl GATA1 and GATA1s mRNA indicating that dysmegakaryopoiesis and erythropoiesis were not due to lack of expression of fl GATA1. These data indicate, for the first time, that T21 by itself profoundly disturbs megakaryopoiesis and erythropoiesis and leads to an increased of frequency of MEP. This has important implications since it provides a testable hypothesis for the role of T21 in the initiating step of AMKL, namely that T21 expands a fetal liver-derived progenitor compartment which forms a substrate upon which GATA1 mutations then confer a further selective advantage.
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Movahedi, Behnaz, Shokufeh Zamani, and Farshad Nouri. "Lead Poisoning in Opium Addicts in Shahid Rajaei Hospital of Karaj, Iran." International Journal of Enteric Pathogens 11, no. 3 (2023): 97–101. http://dx.doi.org/10.34172/ijep.5590.
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Background: Lead (Pb) is a heavy metal that can harm major organs in humans, and its high serum levels can cause poisoning. In Iran, one of the major causes of Pb poisoning is opium consumption because drug dealers combine opium with henna, a plant extract color; Pb is added to this plant for the fixation of its color. Considering that henna makes opium heavier, it costs more, and none of the users can differentiate opium from henna as their color is the same. According to the statistics of the Iranian Ministry of Health and Medical Education, 2.3% of people between the ages of 15 and 60 are drug addicted, of whom 69% to 94% have opiate addiction. Regarding these issues, it seems necessary to study the serum level of Pb in Iranian addicts. Objectives: The status of the serum Pb level and Pb poisoning symptoms among opium addicts was investigated in this study. Materials and Methods: In this study, all addicted patients were selected based on their history of using opium who were referred to the emergency department of Shahid Rajaei Hospital in Karaj (Center of Alborz province in Iran) and were evaluated between March 2016 and September 2016. Blood samples were collected from patients to measure serum Pb levels with atomic absorption by a Perkin device (USA) and evaluate basophilic stippling of red blood cells (RBCs) in a peripheral blood smear under a light microscope. The clinical signs and symptoms of patients were evaluated in several fields. They included neurological problems (including headache, memory impairment, sensory impairment, muscle weakness, seizure, and decreased consciousness), gastrointestinal (GI) problems (including constipation, nausea and vomiting, abdominal colic pain, and anorexia), and general signs and symptoms (including myalgia, fatigue, and the presence of a Pb line on the gum). Results: During the study, 75 patients with opium addiction were enrolled, including 67 (89.3%) males and 8 (10.7%) females. The mean age of patients entering the study was 52 years. Of these patients, only one case (1.3%) used opium by inhalation, and the remaining 74 cases (98.7%) had oral addiction. The mean serum Pb level among these patients was 57.7 μg/dL (the lowest and highest levels were 0.2 and 193 μg/dL, respectively). Of these 75 patients, the serum level of 15 cases (20%) was less than 15 μg/dL, and that of 60 (80%) cases was greater than 15 μg/dL. Of all the patients, the one who had the highest serum levels of Pb (193 μg/dL) went through a seizure, lost consciousness, and died. In general, GI signs and symptoms were more common among patients than any other signs and symptoms. Conclusion: The findings of this study could reveal the most common complications of Pb poisoning in addicted patients, but no relationship was found between rare complications and Pb poisoning level.
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Baweja, Mansoina, Alvaro Moreno-Aspitia, David M. Menke, Vivek Roy, and Abba Zubair. "Marked Elliptocytosis in Myelodysplastic Syndromes (MDS) Is Associated to Deletion of Chromosome 20q." Blood 106, no. 11 (2005): 4927. http://dx.doi.org/10.1182/blood.v106.11.4927.4927.
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Abstract Most common abnormalities in MDS involve the loss of chromosomal material resulting from the loss of an entire chromosome or a part of it, due to deletions or unbalanced translocations. Among partial chromosome losses, del (5q) was found to be the most common followed by del (20q). MDS can also be associated with multiple morphologic RBC abnormalities including macrocytes, ovalocytes, dacrocytes, fragmented cells and basophilic stippling. Limited cases of MDS with elliptocytosis have been reported in the literature. Elliptocytosis encompasses a heterogeneous group of erythrocyte disorders. Although acquired cases of elliptocytosis have been reported, these are most often hereditary disorders with a variable clinical presentation from asymptomatic carriers to patients with severe hemolytic anemia. This disorder is quite rare in the Unites States (US). Mutations in protein 4.1, alpha spectrin, beta spectrin, glycophorin C and band 3 have been reported in hereditary elliptocytosis. Only 7 well reported cases of marked elliptocytosis associated with MDS have been reported in the literature. Of those 7 cases, 4 of them were associated to del(20q). All of them were elderly males and all of them had ≤ 5% bone marrow blasts. Anemia is usually moderate (median 9.4 g/dL; range 8.1–12) and thrombocytopenia is mild to moderate (median platelet count 116 x 109/L; range 46–149 x 109/L). All cases were described either in Europe (n= 1; Rummens et al. Acta Haematologica1986; 75:174–177) or in Asia (n= 3; Ideguchi et al. Br J Haematol.1993, 75:387–92; Ishida et al. Cancer Genetics and Cytogenetics1997, 108:162–165; Hur et al. Clin Lab Haematology, 2004, 26: 69–72). Of these 7 cases, 3 of them were associated with protein 4.1 deficiency. To the best of our knowledge these are the first 2 cases of patients with marked elliptocytosis and MDS with del 20q abnormality reported in the US: Patient 1 Patient 2 Age/sex 82/male 79/male FAB classification RA RA Year of diagnosis of MDS 1998 1999 WBC 3.0 x 109/L 11.5 x 109/L Platelets 82 x 109/L 79 x 109/L Hemoglobin 11.8 g/dL 10.7 g/dL Hematocrit 34.4% 31.9% Reticulocyte 4.3% NA LDH 350 u/L NA Direct Coombs Negative NA BM Cytogenetics 46 XY, del (20)(q11.2) 46 XY, del (20)(q11.2) Prior Therapy supportive care only Erythropoeitin Evaluation for protein 4.1 deficiency in one of these 2 patients is currently pending. The elliptocytosis noted in these MDS patients were most likely derived from acquired clones with abnormal development of the erythroid lineage and were associated with deletion of chromosome 20q. Patients with acquired elliptocytosis and associated MDS with del 20q chromosomal abnormality seem to have an indolent course with prolonged history of mild to moderate blood cytopenias and low risk to transformation to acute leukemia. Further research is needed to deduce the clinical significance of this subtype of MDS with this unusual RBC morphology
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Bartram, Jack, John Old, Lorry Phelan, Mark Layton та Josu de la Fuente. "Novel Haemoglobin Variant [β42 Phe → Cys]: Hb Little Venice". Blood 120, № 21 (2012): 1013. http://dx.doi.org/10.1182/blood.v120.21.1013.1013.
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Abstract Abstract 1013 We report a novel haemoglobin (Hb) variant at position [β42 Phe → Cys] found in a Caucasian male infant with severe chronic haemolytic anaemia. He presented at 5 weeks of age with fever and vomiting and was found to have apparent oxygen saturations of 82% in air by pulse oximetry and Hb 6.7 g/dl. Absolute reticulocyte count 353 × 109/l, LDH 872 u/L, bilirubin 23 mmol/L, direct antiglobulin test (DAT) negative. Blood film showed marked anisopoikilocytosis, keratocytes, irregularly contracted cells, basophilic stippling, nucleated red blood cells, and increased polychromasia consistent with haemolysis and oxidative damage. Echocardiogram, electrocardiogram and chest radiograph were normal. Arterial blood gas revealed normal PaO2. Haptoglobins were absent. Required regular blood transfusions until 6 months of age when he achieved a 3 months period without transfusion and could be further investigated. Hb electrophoresis showed a normal pattern. No evidence of glucose 6 phosphate deficiency, pyruvate kinase or 5' pyrimindine nucleotide deficiency. Heinz preparation was positive, with positive heat stability and isopropanol test suggesting the presence of variant haemoglobin. Snap frozen mass spectrometry was performed which demonstrated a low abundance (4%) of a variant haemoglobin. This was further characterised by DNA sequencing of the beta-globin gene which revealed the presence of a novel heterozygous mutation of the beta chain. A single amino acid substitution at the 42 amnio acid of the beta chain was identified resulting in Phenylalanine being replaced by cysteine [β42 Phe → Cys]. Both parents were studied for the mutation and were found to be negative. At 2 years of age the level of variant haemoglobin was 12% and oxygen dissociation curve showed oxygen P50 of 29.5 mmHg (reference range: 29.5 – 32.0) indicating no evidence of altered oxygen affinity. He continues with severe chronic haemolytic anaemia exacerbated by infections and requires a monthly regular transfusion regime. Phenylalanine in position 42 (the first position of the region between the C and D helices - CD1) of the β chain participates in the contacts with haem. It is a critical amino acid in the haem pocket, maintaining solubility and stability. Substitution of this phenylalanine by cysteine removes a contact with haem leaving a gap at the surface of the haem pocket and results in instability. There are three other Hb variants resulting from substitutions in position 42: Hb Hammersmith, Hb Louisville and Hb Sendagi, substitutions for serine, leucine and valine respectively. Hb Hammersmith being more severe and leading to transfusion dependence in some of the cases, whilst the others are mild to moderate, only requiring transfusions for infective episodes. There are over 800 variant Hb are described with the majority not being clinically significant. Of those which are significant, greater then 95% are due to single amino acid substitutions (as in our case) which changes the structure of the Hb. The clinical abnormalities are attributable to the changes in Hb solubility, stability and capacity to carry and deliver oxygen. Disclosures: No relevant conflicts of interest to declare.
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James, Rebecca, Tom Johnston, Tracy Lightfoot, et al. "A Comprehensive Report of Blood Cell Morphology for Neonates with Down's Syndrome In the UK: A Report From the Children with Down's Syndrome Study." Blood 116, no. 21 (2010): 80. http://dx.doi.org/10.1182/blood.v116.21.80.80.
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Abstract Abstract 80 Introduction: The Children with Down's Syndrome Study (CDSS; www.cdss.org.uk) is a unique observational study following a population-based cohort of children with Down's syndrome (DS) from birth onwards. Although haematological abnormalities are well recognised in DS neonates blood morphology is less well described. This is the first prospective report of blood cell morphology in DS neonates. Methods: Recruitment to the population based CDSS opened in May 2006 and is ongoing. At entry, a blood sample taken in EDTA is sent to a designated laboratory with full CPA (UK) accreditation. Blood films were reviewed by two Paediatric Haematologists following a specific proforma developed after a series of pilot studies which had identified the range of morphological abnormalities seen in DS neonates. Reporting was subsequently standardised so that inter and intra-operator variability were minimised. Critically, abnormal features were recorded for each individual white cell. All slides reported on here were taken within 28 days of birth and had to be of adequate quality with regard to stain, spread and EDTA change. These were considered independently for cell type. Results: Microscopic review was performed in slides from 154 DS neonates; 88 of these met the quality criteria for at least one cell type. The most consistent abnormalities were of platelets: giant platelets were present in 78/88 (89%); pale, hypogranular platelets in 61/88 (69%) and megakaryocyte fragments in 30/88 (34%). The most common red blood cell changes were macrocytosis and polychromasia, occurring in ≥5% all red cells in 48/68 (71%) and 33/68 (49%) respectively. Nucleated red blood cells were seen in 34/71 (48%); spherocytes in 28/68 (41%); target cells in 27/68 (40%); Howell Jolly bodies in 26/68 (38%) and basophilic stippling in 9/69 (13%). The neutrophils tended to be hypogranular 35/36 (97%) and/or agranular 6/36 (17%). None were hypergranular. Neutrophil vacuolation was common, occurring in 29/36 (81%) whilst Pelgeroid neutrophils occurred in 12/36 (33%) and hypersegmentation in 7/36 (19%). Granulocytic nuclear/cytoplasmic dysynchrony was noted in 25/36 (69%) with the nucleus appearing relatively immature and with the granules often clustering in one area leaving an area of agranular bluish cytoplasm. Lymphocyte morphology was unremarkable. Monocytes were typically vacuolated and often had stellate or elongated nuclei: these features occurred in 30/36 (83%); 27/36 (75%) and 6/36 (17%) slides respectively; no azurophilic granules were seen. Both eosinophils and basophils tended to be dysplastic with abnormal hypogranulation in 18/36 (50%) and 20/36 (56%) respectively. Blasts were seen in 19/36 (53%), but cytoplasmic blebbing was rare 2/36 (6%). In the majority the blast type could not be ascribed. Conclusions: The blood cell morphology of DS neonates described above is distinctive and resembles that typically seen in the fetus. An unusual feature of DS neonates is the spontaneous regression of transient myeloproliferative disorder (TMD). This work suggests that fetal, ie hepatic, haematopoiesis is still significant in DS neonates and supports the idea that TMD arises from a fetal progenitor and regresses as the cellular context changes to turn off hepatic haematopoiesis. Myeloid leukaemia later develops in ∼20% who have had TMD. This might occur if a GATA1 mutated fetal progenitor was able to seed and successfully populate the bone marrow. Importantly, although blasts were present in 53%, not all of these had TMD. There is a clear clinical imperative for identifying TMD as it occurs in ∼4-6% DS neonates and defines a group at high risk of developing a highly treatable leukaemia within a limited time-frame. This work suggests that full blood count and film review alone are insufficient to identify TMD, and that GATA1 mutation analysis is needed. Such expensive, time consuming and specialized analysis would require a national approach. An important lesson of this work is also the need to standardise morphology reporting: to quantify what is an inherently qualitative and subjective process. The proforma developed here provides a template for others to use in this group and in the general population. Disclosures: No relevant conflicts of interest to declare.