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Artykuły w czasopismach na temat „Congenital hemolytic anaemia”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Fazilatunnesa, Anjuman Ara, Mohammad Asadujjaman, et al. "Congenital Haemolytic Anaemia with early onset and uncommon presentation: A Case Report." Community Based Medical Journal 6, no. 2 (2017): 32–37. http://dx.doi.org/10.3329/cbmj.v6i2.54729.

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Haemolytic anaemias result from an increase in the rate of red cell destruction. The lifespan of the normal red cell is 100-120 days; in the haemolytic anaemias it is shortened by varying degrees, and in very severe cases may be only a few days. Here we described a male child of 1.5 months presented with yellow coloration of whole body and sclera since birth, progressive pallor since birth & gradual abdominal distention for 20 days. The child was admitted to hospital with the complaints of bleeding from mouth and nose for 3 days. Peripheral blood film of the child showed features of hemoly

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Nasreen, Ali*1 Sunil Kumar Agarwalla2 Subhrajit Parida1 &. Minakhi Kumari Sahu1. "A RARE PRESENTATION OF CONGENITAL HEMOLYTIC ANAEMIA IN AN INFANT WITH AMNIOTIC BAND AND MENINGOCELE." INTERNATIONAL JOURNAL OF ENGINEERING SCIENCES & RESEARCH TECHNOLOGY 4, no. 7 (2017): 17–20. https://doi.org/10.5281/zenodo.835656.

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Amniotic band syndrome (ABS) is a rare condition, potentially associated with a variety of different birth defects. It is also known as ADAM complex (amniotic deformities, adhesion, mutilation), amniotic band sequence, amniotic disruption complex, annular grooves, congenital amputation, congenital constricting bands, Streeter bands, Streeter anomaly, transverse terminal defects of limb, aberrant tissue bands, amniochorionic mesoblastic fibrous strings, and amniotic bands.The severity of amniotic band syndrome can range from a single, isolated finding to multiple, disfiguring complications. The

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Shirazi, Nadia, Payal Chauhan, Rashmi Jindal, and Sohaib Ahmad. "Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation." Journal of the College of Physicians and Surgeons Pakistan 29, no. 06 (2019): S23—S25. http://dx.doi.org/10.29271/jcpsp.2019.06.s23.

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Salah Hussein, Mohammed, Hussain Ali Al Baqir, Abdullah Saleh Waznah, et al. "Epidemiology and Administration outcomes of Thrombotic Thrombocytopenic Purpura (TTP): Review article." Saudi Medical Horizons Journal 2, no. 3 (2022): 124–33. http://dx.doi.org/10.54293/smhj.v2i3.53.

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Background: Fever, thrombocytopenia, hemolysis, pentad failing kidneys, anaemia, and neurological impairment has historically been used to describe bleeding as the blood syndrome “thrombotic thrombocytopenic purpura” (TTP), a type of hemolytic anaemia caused by microangiopathy. TTP is an uncommon condition, and it is unclear exactly how often it is? According to studies, incidence per million depends on where individuals live. TTP can occur in youth with congenital forms, however it mostly strikes adults over the age of 40. The two organ systems most frequently impacted by TTP are the nerve sy

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Huang, Stephen, Kevin R. Gillinder, Annabel Sorolla, Emma Whitelaw, and Andrew C. Perkins. "Mutations in the Second Linker of KLF1 Cause Congenital Non-Spherocytic Hemolytic Anemia Due to Global Reduction of In Vivo DNA-Binding Affinity." Blood 128, no. 22 (2016): 1246. http://dx.doi.org/10.1182/blood.v128.22.1246.1246.

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Abstract The mommeD45 mutation generates an amino acid transversion (H350R) within a conserved linker peptide between zinc fingers two and three of Klf1 (linker 2). Klf1H350R/H350R mice have mild compensated microcytic anaemia 1. Mice Carrying the H350R mutation were interbred with Klf1+/- mice. Klf1H350R/-mice have severe perinatal haemolytic anaemia, jaundice and marked splenomegaly. Haematological evaluation of these mice shows similar phenotypes to human patients who are compound heterozygotes for null and linker 2 mutations in KLF12. Analysis of Klf1H350R/- fetal liver by flow cytometry s

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Goudet, Claire, Cécile Ged, Audrey Petit, et al. "Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives." Life 14, no. 1 (2024): 130. http://dx.doi.org/10.3390/life14010130.

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(1) Background: Congenital erythropoietic porphyria (CEP), named Günther’s disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medi

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Chowdhury MZR, Benzamin M, Chowdhury T, et al. "Pattern of Thalassemia and other Hemoglobinopathies in Sylhet, Bangladesh." Journal of Sylhet Women’s Medical College 14, Number 1 (2024): 33–36. http://dx.doi.org/10.47648/jswmc2024v14-01-90.

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Background: Thalassemias and hemoglobinopathies are the most common inheritant hemolytic congenital disorders in Bangladesh.There is no well precise validated data available about the prevalence of Thalassaemia and related hemoglobin disorders in Bangladesh. Method: This retrospective, cross-sectional observational study was carried out in Dr.Benzamin’s Pediatric Liver Research Centre and Nutrition Clinic, Sylhet, Bangladesh. We reviewed the data record software of the hematology section of the Popular Diagnostic Centre and Mount Adora Hospital, Sylhet, from March, 2022 to July, 2023 and colle

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Khatun, Jamila, and Ruly Begum. "Effect of Rhesus Negative in Pregnancy." Medicine Today 30, no. 1 (2018): 23–25. http://dx.doi.org/10.3329/medtoday.v30i1.35561.

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Hemolytic disease of the newborn due to Rhisoimmunisation is a major cause to perinatal morbidity & mortality. Erythroblastosis fetalis is a disease of fetus and newborn due to incompatibility between fetal and maternal blood group. Diagnosis and therapy for Rh immunization improved considerably. Its prevention by immunoprophylaxis has been responsible for the reduction in the incidence of perinatal mobility. Still Rh immunization and erythroolastosis fetalis is responsible for many obstetric mishaps in our country. To see the pregnancy outcome of Rhesus negative women. This prospective st

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9

Kedar, Prabhakar S., Rashmi Dongerdiye, and Manisha R. Madkaikar. "Five Novel Hemizygous Variants in the PGK1 Gene Associated with Neurological Dysfunction and Mild Hemolytic Anemia in Five Indian Patients." Blood 142, Supplement 1 (2023): 5209. http://dx.doi.org/10.1182/blood-2023-185588.

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Introduction Phosphoglycerate kinase (ATP: 3-phosphoglycerate 1-phosphotransferase; EC 2.7.2.3; PGK) is the crucial enzyme of the glycolytic pathway, catalyzing1, 3 bis-phosphoglycerate to 3-Phosphoglycerate, generating one molecule of ATP [1]. PGK enzyme is encoded by the PGK1 gene located at Xq13.3, measures 23kb in size, and spans into 11 exons. PGK deficiency is an X-linked disorder associated with a very rare cause of hereditary non-spherocytic hemolytic anemia (HNSHA). PGK1 gene is ubiquitously expressed but the patients exhibit three major symptoms -1) haemolytic anemia 2) myopathy (rha

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Kamat, Anil V., and Raphael Ezekwesili. "Chance Detection of CD16 Deficiency on Polymorphonuclear Neutrophils in Iron Deficiency Anemia." Blood 108, no. 11 (2006): 3839. http://dx.doi.org/10.1182/blood.v108.11.3839.3839.

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Abstract Introduction CD16 (FcgRIII) is a low affinity receptor for immunoglobulin G(IgG)constitutively expressed on polymorphonuclear neutrophils, monocytes and NK-cells with various effector functions including phagocytosis of opsonized particles or of immune complexes and in antibody-dependent cellular cytotoxicity (ADCC). Congenital defect of neutrophil CD16 expression has been reported with variable phenotypic associations such as anaemia, neutropenia, autoimmune thyroiditis, recurrent infections, acute myeloid leukaemia, systemic lupus erythematosis and in mothers whose newborns have dev

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11

Alsanosi, Ebtisam. "Congenital hypothyroidism in a child with Sickle cell anemia (a Case Report)." Sirte Journal of Medical Sciences 1, no. 2 (2022): 16–18. http://dx.doi.org/10.37375/sjms.v1i2.321.

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Sickle cell disease (SCD) is an autosomal recessive disease common in negros and Arab.1 The main pathological cause is the substitution of valine with glutamic acid in the β-chain of haemoglobin producing abnormal haemoglobin called haemoglobin S.1,2,3 The production of this abnormal haemoglobin is responsible for the sickling of red blood cells in deoxygenated conditions. The symptoms include chronic intravascular hemolysis, vaso-occlusion and painful crisis.1,3 Over time, multiple organ damage can develop.1,3,4 Patients with SCD display a defective activation of the alternate complement path

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Venkatachala, Rao Preethi, CN Sheela, Seetharam Anandram, and Cecil R. Ross. "Congenital hemolytic anaemias in pregnancy – experience in a tertiary care hospital in South India." International Journal of Clinical Obstetrics and Gynaecology 4, no. 4 (2020): 60–64. http://dx.doi.org/10.33545/gynae.2020.v4.i4b.620.

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13

Krishnevskaya, Elena, Marta Molero, Águeda Ancochea, Ines Hernández, and Joan-Lluis Vives-Corrons. "New-Generation Ektacytometry Study of Red Blood Cells in Different Hemoglobinopathies and Thalassemia." Thalassemia Reports 13, no. 1 (2023): 70–76. http://dx.doi.org/10.3390/thalassrep13010007.

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Next-generation ektacytometry provided by the osmoscan module of the Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one of the best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osmotic gradient ektacytometry (OGE) is currently considered the gold standard for the diagnosis of red cell membrane disorders, especially hereditary spherocytosis (HS). Impairment of red cell deformability, leading to a decrease in red cell survival rate, is the common trait of hereditary haemolytic anaemias; in general, it is the consequence of an

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Ben-Ami, Tal, Mohammad Natour, David Rekhtman, Tenenbaum Ariel, and Shoshana Revel-Vilk. "Iron Deficiency Anemia As a Leading Cause of Severe Anemia in Children May be Associated with Unnecessary Red Blood Cells (RBCs) Transfusion." Blood 126, no. 23 (2015): 4454. http://dx.doi.org/10.1182/blood.v126.23.4454.4454.

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Abstract Background: Anemia is a global public health problem affecting both developing and developed countries. Most literature on severe anemia in children is reported from developing countries, where malaria infection and malnutrition are the main causative factors. According to the world health organization (WHO) report, in Israel, as in many western countries, anemia is considered a mild public health problem (1). The aim of this study it to analyze the causative factors and management of severe anemia in children living in a country where anemia is not considered a major health problem.

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Hotchandani, Hema, Asmita Gawde, Sneha Waghela, Purvi Kadakia, Sujata Sharma, and Radha Ghildiyal. "CONGENITAL DYSERYTHROPOIETIC ANAEMIA MIMICKING HEREDITARY SPHEROCYTOSIS: NAVIGATING A DIAGNOSTIC CHALLENGE." INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH, January 1, 2025, 40–41. https://doi.org/10.36106/ijsr/3701661.

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Congenital Dyserythropoietic Anemias (CDAs) are a heterogeneous group of inherited blood disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities in the bone marrow erythroblasts. CDA type II (CDAII) is the most common subtype, but its diagnosis is often complicated by overlapping clinical features with other hemolytic anemias like Hereditary spherocytosis (HS). We report a case of a 12-yearold female born of a third-degree consanguineous marriage with mild pallor, jaundice, and splenomegaly. Initial investigations pointed towards RBC membranopathy, howeve

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D, Gayathri, and M. Kulandaivel. "“PREVALENCE AND PATTERN OF ANAEMIA IN CHILDREN BETWEEN 1-5 YEAR OLD CHILDREN: A HOSPITAL-BASED STUDY”." PARIPEX INDIAN JOURNAL OF RESEARCH, December 15, 2020, 1–2. http://dx.doi.org/10.36106/paripex/8900560.

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Background: ‘Anaemia’ refers to a condition in which the hemoglobin content of the blood is lower than normal as a result of deficiency of one or more essential nutrients, heavy blood loss, parasitic infections and congenital hemolytic diseases. Anemia is a critical health concern because it affects growth and energy levels adversely. The present study was done to determine the prevalence, associated factors and pattern of anemia in under five-year-old children in a tertiary care teaching hospital. Methods: A prospective observational study was carried out among under five-year-old children ad

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Amit, kumar Ramandeep Kaur Dr. Vikas Gupta. "A REVIEW ON ANEMIA IN PREGNACY." January 1, 2025. https://doi.org/10.5281/zenodo.14583971.

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<strong>ABSTRACT</strong> <strong>KEYWORDS</strong>: *Anemia * Pregnancy *Hemoglobin *Iron *Folate * nutritional* iron deficiency *oral iron *and folate B12 <strong>KEYPOINTS.</strong> ·       Physiologic anemia occurs in pregnancy because plasma volume increases more quickly than red cell mass. ·       Anemia in pregnancy is defined as hemoglobin and hematocrit lower than 11% and 33% in the first trimester, 10.5% and 32% in the second trimester, and 11% and 33% in the third trimester. ·    &nb

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Dongerdiye, Rashmi, Abhilasha Sampagar, Rati Devendra, Prashant Warang, and Prabhakar Kedar. "Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family." BMC Medical Genomics 14, no. 1 (2021). http://dx.doi.org/10.1186/s12920-021-01038-2.

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Abstract Background Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional cases). Only ten mutations have been detected in the AK1 gene to date. In this study, we aimed to diagnose the unexplained issue of haemolytic anaemia and offer antenatal screening to the family. Methods Genomic DNA was isolated from whole blood by a standard protocol. Targeted next-generation sequencing (t-NGS) was performed to identify pathogenic variants in the patient

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Azizullah, Saroop Chand, Mushtaque Ali Shah, et al. "Prevalence and Patterns of Electrolyte Imbalance in Children Diagnosed with Acute Severe Malnutrition at a Nutritional Stabilization Center." Pakistan Journal of Health Sciences, September 30, 2024, 96–100. http://dx.doi.org/10.54393/pjhs.v5i09.2137.

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Malnutrition accounts for around 35% of all fatalities in Pakistan among children under five, making it the primary cause of childhood mortality in that country. The most severe type of malnutrition, known as severe acute malnutrition (SAM), was frequently linked to electrolyte abnormalities. The purpose of this study was to ascertain how frequently electrolyte imbalance occurred in children with SAM who were admitted to a tertiary care facility. Objective: To Determine the Prevalence and Patterns of Electrolyte Imbalance in Children Diagnosed with Acute Severe Malnutrition at a Nutritional St

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