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Journal articles on the topic 'BETA-THALASSEMIA TRAIT'

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Published: 11 March 2023

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1

Khan, Muhammad Ihtesham, Hamid Nawaz Khan, and Muhammad Usman. "BETA THALASSEMIA TRAIT;." Professional Medical Journal 25, no. 04 (2018): 545–50. http://dx.doi.org/10.29309/tpmj/18.4347.

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2

Khan, Muhammad Ihtesham, Hamid Nawaz Khan, and Muhammad Usman. "BETA THALASSEMIA TRAIT." Professional Medical Journal 25, no. 04 (2018): 545–50. http://dx.doi.org/10.29309/tpmj/2018.25.04.343.

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Objectives: To assess the sensitivity of the various discrimination indicesas screening test in beta-thalassemia trait patients in our population. Study design: Crosssectional descriptive study. Period: 1-Sep 2012 to 31-Jan 2013 (5 months). Settings: PathologyDepartment, District Head Quarters (DHQ) Hospital, Rawalpindi. Materials and Methods: Atotal of 150 diagnosed cases of beta thalassemia trait were included in the study. Study wasdone from 1-Sep 2012 to 31-Jan 2013 in DHQ hospital, Rawalpindi. Four discrimination indicesi.e. Mentzer, Shine & Lal, Srivastava, and Red cell Distribution
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3

Setiadji, Vinisia, Bidasari Lubis, Adi Koesoema Aman, and Herman Hariman. "DISCREPANCY BETWEEN HAEMOGLOBIN, RDW, AND MEAN CORPUSCULAR VALUES IN PATIENTS WITH BETA THALASSEMIA / HEMOGLOBIN E DISEASE AND BETA THALASSEMIA TRAIT." INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 25, no. 3 (2019): 343. http://dx.doi.org/10.24293/ijcpml.v25i3.1459.

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Thalassemia beta / hemoglobin E adalah suatu kondisi dengan heterozigot ganda gen pembawa thalassemia beta dan hemoglobin E. Hal ini menyebabkan kondisi dengan gambaran fenotip yang berat dibandingkan trait thalassemia beta dan trait hemoglobin E. Secara logika, nilai mean corpuscular dari thalassemia beta / hemoglobin E seharusnya memburuk. Pada penelitian ini, kami meneliti sebelas kasus dari dua keluarga dengan anggota menderita thalassemia beta / hemoglobin E.Pada keluarga-1 dua anggota dengan trait thalassemia beta memiliki nilai MCV 68 fL dan 65 fL, dan nilai MCH 21 pg dan 20 pg. Pada ke
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4

Rahman, MMU, M. Nayem, W. Begum, FA Begum, MNU Ahmed, and S. Sultana. "Pattern of Red Cell Count and Red Cell Distribution Width (RDW %) in Beta Thalassaemia Trait in Adults." Bangladesh Journal of Medical Biochemistry 9, no. 1 (2018): 31–35. http://dx.doi.org/10.3329/bjmb.v9i1.36152.

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Microcytic hypochromic anemia is one of the commonest hematological abnormalities in Bangladeshi population. Iron deficiency anemia and beta thalassemia traits are the most frequent causes of microcytic hypochromic anemia which are sometimes difficult to differentiate clinically and by routine laboratory examinations due to similar blood picture. To differentiate between patients of beta thalassemia trait and iron deficiency anemia, physicians need a group of investigations including peripheral blood film, estimation of HbA2, serum ferritin, serum iron, total iron binding capacity and transfer
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5

Shalli, Awaz Ahmed Kamal, Sana Dlawar Jalal, and Dler Jaza Mohammed. "The impact of iron deficiency on the diagnostic level of HbA2 in beta- thalassemia trait from the Sulaimani hemoglobinopathies screening program." Advanced medical journal 7, no. 1 (2022): 95–100. http://dx.doi.org/10.56056/amj.2022.164.

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Background and objectives: The identification of carriers of beta- thalassemia depends on the detection of a high level of hemoglobin A2. The hemoglobin A2 level is influenced by some elements including iron. The consequence of concomitant iron deficiency on the hemoglobin A2 level is critical in screening laboratories for hemoglobinopathies, particularly in resource-limited ones where molecular identification of hemoglobin A2 levels is unavailable. The aim of this study is to evaluate the consequence of iron deficiency on hemoglobin A2 level to obtain a definite diagnosis of beta- thalassemia
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6

Bhatt, Rajendra Dev. "Report of Beta Thalassemia in Newar Ethinicity." Annals of Clinical Chemistry and Laboratory Medicine 3, no. 1 (2018): 30–34. http://dx.doi.org/10.3126/acclm.v3i1.17298.

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Beta thalassemia trait is a heterogeneous autosomal recessive form of beta thalassemia. Individual with beta thalassemia are clinically asymptomatic. Here we have described a case that has been incidentally diagnosed as beta thalassemia trait. A 31 year old male form Newar Community came to hospital for routine health checkup was send for hematological investigation. On examination, his red cell morphology was found to be microcytic hypochromic and his hemoglobin concentration was mildly decrease. His other parameters was evaluated and requested for analysis of iron profile and hemoglobin elec
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7

Dutta, Shyamali, Tuphan Dolai, Rajat Kumar, et al. "Are Red Cell Indices a Reliable Screening Tool in Pre-Natal Screening for the Avoidance of E-Beta Thalassemia and Beta Thalassemia Major Births? Results of a Population Survey From Eastern India." Blood 118, no. 21 (2011): 5303. http://dx.doi.org/10.1182/blood.v118.21.5303.5303.

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Abstract Abstract 5303 The state of West Bengal in the eastern part of India has a high prevalence of the carrier states of beta thalassemia and Hb E. Analysis of Hb HPLC screening data from 200 individuals, including adults and children from urban areas around Kolkata in West Bengal, carried out in our institution1, reveals a prevalence 6.5% for beta trait and 5.5% for HbE trait. (unpublished data) It may be possible to reduce births of beta thalassemia major and E beta thalassemia by preventive strategies, including mass screening and awareness campaigns. The best preventive method is debata
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8

Kotila, Taiwo R. "Sickle Cell Trait: A Benign State?" Acta Haematologica 136, no. 3 (2016): 147–51. http://dx.doi.org/10.1159/000446526.

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Background: Sickle cell trait (SCT) is the heterozygous form of sickle cell disease and expectedly should be a benign state with no complications ascribed to it. There are numerous reports challenging its being a benign condition, though this is controversial. Methods and Results: A review of the results of the accompanying investigations done on some of the patients show that beta thalassemia may be responsible for many of the ascribed symptoms and complications. These patients may therefore have sickle cell beta thalassemia, a compound heterozygous form of sickle cell disease. Conclusion: It
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9

Akasheh, M. S. "Graves' disease mimicking beta-thalassemia trait." Postgraduate Medical Journal 70, no. 822 (1994): 300–301. http://dx.doi.org/10.1136/pgmj.70.822.300.

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10

Shahid, Hassnain, Maryam Saleem, Nauman Naseer, Samina Tabussam, Atif Aziz, and Saeed Ullah. "Evaluation of Srivastava index to distinguishing Beta-Thalassemia Trait from Iron Deficiency." Pakistan Journal of Medical and Health Sciences 16, no. 5 (2022): 1225–27. http://dx.doi.org/10.53350/pjmhs221651225.

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Objective: To assist in the differential diagnosis of beta thalassemia trait and iron deficiency anaemia, many alternative red blood cell index-based formulae were examined. Methods: The Rawalpindi PEMH performed this study from June 2021 to March 2022. For individuals with beta- thalassemia trait and iron deficient anaemia, age and gender were not considered. More than five millilitres of blood were drawn from each patient in order to determine the haemoglobin content, the number of red blood cells, how they were distributed, and the average cell volume. Five alternative formulas may be used
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11

Premawardena, A. P., T. Malewana, M. Arambepola, N. F. Olivieri, and D. J. Weatherall. "Reappraisal of Symptoms and Signs of Uncomplicated Beta Thalassemia Trait." Blood 104, no. 11 (2004): 3788. http://dx.doi.org/10.1182/blood.v104.11.3788.3788.

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Abstract Although considered a mild disorder, beta thalassemia trait (uncomplicated by any other hematologic abnormality) has been reportedly associated with symptoms of anemia, while in other series hepatosplenomegaly has been reported as associated with this diagnosis. No controlled study has examined the symptoms and signs of individuals with beta thalassemia trait and compared these with age- and sex-matched normal individuals. We administered a questionnaire to 397 parents (67% females) of children with beta thalassemia major attending the National Thalassemia Centre in Kurunagala, Sri La
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12

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 pro
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13

Rashid, Nasir, Almas Raza, Syed Zeeshan Haider Naqvi, and Sheema Khan. "Frequency of Fetal Hemoglobin Level in Siblings of Betathalassemia Major patients." Pakistan Journal of Medical and Health Sciences 16, no. 7 (2022): 186–87. http://dx.doi.org/10.53350/pjmhs22167186.

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Aim: To see the frequency of fetal haemoglobin level in siblings of beta thalassemia major (BTM) patients. Study population: A total of 400 subjects were included. Grouping: Group A includes normal siblings of BTM cases, B includes beta thalassemia trait (BTT) siblings of BTM cases and group C were healthy controls. Selection criteria: Asymptomatic siblings of diagnosed cases of beta thalassemia major were included. Patients with history or diagnosis of any acute or chronic illnesses were excluded from the study. 5 ml of blood was taken in EDTA vial and used for haemoglobin electrophoresis. Re
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14

Moustafa, Amal Zaghloul, Reem A. Almalki, Esra’a I. Qhashgry, et al. "Prevalence of hemoglobin abnormality in the premarital screening Saudi population in Makkah city in a cross-sectional study Abstract." Saudi Medical Horizons Journal 2, no. 1 (2022): 17–25. http://dx.doi.org/10.54293/smhj.v2i1.25.

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Background: Thalassemia and hemoglobinopathies have significant complications on the children's health. Also, they have a higher cost for treatment. The prevalence of these diseases differs from one area to another in Saudi Arabia. Aims: To detect the different hemoglobin abnormality and their frequency in the premarital population in Makkah city. Methods: A cross-sectional study was conducted, which included 473 subjects who attended the premarital screening tests at the maternity and children Hospital laboratory and Heraa hospital. We were collected the data of the complete blood count, hemo
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15

Sharma, Hidangmayum Dwijaraj, Konsam Biona Devi, Pravin Kumar, Ksh Birendra Singh, Diamond Princy J., and Rajesh Boini. "Pattern of hemoglobinopathies and thalassemia in Manipur, India." International Journal of Advances in Medicine 7, no. 3 (2020): 474. http://dx.doi.org/10.18203/2349-3933.ijam20200661.

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Background: Hemoglobinopathies are the commonest genetic disorders worldwide. Thalassemia Major, Thalassemia Intermedia and Sickle Cell Disease are the major disorders that require lifelong management and are to be considered for prevention. In India, Beta-Thalassemia is prevalent across the country, with an average frequency of carriers being 3-4%.Methods: This is a cross sectional study conducted between June 2016 - May 2017 in the Department of Medicine, RIMS Imphal in 453 patients as a workup for anemia and clinically suspected cases of Hemoglobinopathy or beta thalassemia. Blood samples w
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16

Lima, Carmen Silvia Passos, Aparecida Ribeiro de Carvalho Reis, Helena Zerlotti Wolf Grotto, Sara Teresinha Ollala Saad, and Fernando Ferreira Costa. "Comparison of red cell distribution width and a red cell discriminant function incorporating volume dispersion for distinguishing iron deficiency from beta thalassemia trait in patients with microcytosis." Sao Paulo Medical Journal 114, no. 5 (1996): 1265–69. http://dx.doi.org/10.1590/s1516-31801996000500005.

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The red cell distribution width (RDW), and another red cell discriminant function incorporating RDW (MCV² x RDW/Hgb x 100) were determined in a group of 30 patients with iron deficiency anemia, 30 patients with beta thalassemia trait, and 30 normal subjects. Both RDW and (MCV² x RDW/Hgb x 100) mean values were significantly higher in iron deficiency anemia than in beta thalassemia trait (p<0.001). Taking RDW equal or above 21.0 percent among microcytic anemia patients, we identified correctly 90.0 percent of patients with iron deficiency anemia. The sensitivity and specificity of the test w
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17

Shilpa, TA, MNarayana Swamy, and Stephen Benny. "Systemic lupus erythematosus and beta-thalassemia trait." APIK Journal of Internal Medicine 8, no. 1 (2020): 22. http://dx.doi.org/10.4103/ajim.ajim_10_19.

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18

Kashinkunti, Mohan D., and Radhika Acharya. "Beta Thalassemia Trait among Antenatal Mothers and Those with Microcytic Anaemia." Journal of Evidence Based Medicine and Healthcare 8, no. 28 (2021): 2503–8. http://dx.doi.org/10.18410/jebmh/2021/463.

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BACKGROUND Among microcytic hypochromic anaemias, the most common disorders are iron deficiency anaemia (IDA) and co-pathological conditions such as α- or βthalassemia (α- or β- thalassemia) traits. Thalassemia minor is often an asymptomatic carrier state but exhibit marked microcytosis that can be mistaken for iron deficiency. About 1.5 % of the global population (80 to 90 million people) are carriers of thalassemia and more than 200 mutations are described in thalassemia, the only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. The purpose of this study was
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19

Setiawan, Doni, Hendri Setiawan, and Ary Nurmalasari. "Indeks Formula Eritrosit Untuk Uji Skrining Talasemia Beta Minor." Jurnal Analis Medika Biosains (JAMBS) 8, no. 2 (2021): 114. http://dx.doi.org/10.32807/jambs.v8i2.247.

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Erythrocyte indices have been used as the first indicator in screening for beta-thalassemia minor. However, iron deficiency in hemoglobinopathies can reduce the sensitivity of screening, and the spectrum of mutations of different hemoglobinopathies between populations will result in discontinuation of the results of different erythrocyte indices. The research objective in this study was to determine the description of the erythrocyte indices used to screen for beta-thalassemia trait in Ciamis. The research method used in this study was a quantitative descriptive, using a cross-sectional study,
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20

Szeto, Yim, and Charlton Chan. "Association Between Thalassemia and Leucocytic DNA Damage: A Pilot Study." Journal of Basic and Applied Research in Biomedicine 7, no. 1 (2021): 29–31. http://dx.doi.org/10.51152/jbarbiomed.v7i1.211.

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Objectives: Thalassemia with frequent blood transfusion was considered under oxidative stress because of the chance of iron overload. Patients with thalassemia trait with no blood transfusion might also suffered from oxidative stress because of increased iron metabolism. This pilot study was to investigate if patients of alpha or beta thalassemia trait and received no blood transfusion were suffered from oxidative stress in term of DNA damage in peripheral leucocytes. Method: Comet assay was used to measure DNA damage of 20 normal subjects, 8 alpha and 12 beta thalassemia patients who did not
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21

Bierman, Kaitlin, Harold M. Maurer, and James Harper. "Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH) Determinations in Newborns with Beta Thalassemia." Blood 132, Supplement 1 (2018): 4904. http://dx.doi.org/10.1182/blood-2018-99-110991.

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Abstract Newborns with alpha thalassemia trait have microcytic red blood cells (RBCs) used as a diagnostic screening tool at birth. Infants with beta thalassemia present with microcytosis sometime during the first year of life; however, whether microcytosis is present in newborns is unknown. In this study, we determined the MCV and MCH values in newborn infants, who have beta0 thalassemia major, intermedia, and minor by performing a retrospective study, with IRB approval. 189 eligible patients seen by the hematology/oncology group of 10 physicians at Children's Hospital Medical Center (CHMC) a
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Liebhaber, SA, FE Cash, and DB Cornfield. "Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia." Blood 71, no. 2 (1988): 502–4. http://dx.doi.org/10.1182/blood.v71.2.502.502.

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Abstract The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha- thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with Hb C trait should be balanced despite the low levels of Hb C in their circulating erythrocytes. To directly test this prediction, we have measured the beta A and beta C synthetic capacity of ret
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Liebhaber, SA, FE Cash, and DB Cornfield. "Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia." Blood 71, no. 2 (1988): 502–4. http://dx.doi.org/10.1182/blood.v71.2.502.bloodjournal712502.

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The level of Hb C in the erythrocytes of individuals with Hb C trait decreases significantly in the presence of coexisting alpha- thalassemia. This relationship may result from the higher affinity of beta A than beta C for limiting amounts of alpha-globin during hemoglobin assembly. This mechanism would predict that the beta A and beta C synthetic capacity in alpha-thalassemic individuals with Hb C trait should be balanced despite the low levels of Hb C in their circulating erythrocytes. To directly test this prediction, we have measured the beta A and beta C synthetic capacity of reticulocyte
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Kumar, Santosh, Deepa Singh, and Abhay Garg. "An epidemiological study on the clinico-hematological profile of pediatric patients with congenital hemolytic anemia." International Journal of Contemporary Pediatrics 4, no. 2 (2017): 374. http://dx.doi.org/10.18203/2349-3291.ijcp20170021.

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Background: Among the inherited disorders of blood, haemoglobinopathy and thalassaemia constitute a major bulk of congenital hemolytic anemia in India.Methods: The present cross sectional study was conducted on pediatric patients aged 0-15 years admitted in pediatric ward of Department of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India between December 2015 to November, 2016. The data on socio-demographic profile, relevant clinical history and examination and hematological parameters were assessed. Results: Out of 211 patients evaluated, most common cause of congenit
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25

Parthasarathy, Veda. "A Search for Beta Thalassemia Trait in India." Turkish Journal of Hematology 29, no. 4 (2012): 427–29. http://dx.doi.org/10.5505/tjh.2012.21703.

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26

Deb Nath, Jishu. "Familial Association of Gilberts and Beta Thalassemia Trait." Chattagram Maa-O-Shishu Hospital Medical College Journal 13, no. 1 (2014): 65–66. http://dx.doi.org/10.3329/cmoshmcj.v13i1.19425.

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A 21 yrs old male from Jatrabari, Dhaka became unfit to travel to Gulf, as his serum bilirubin was found 5.7 mg/dl. He was diagnosed to have Thalassemia trait along with Gilbert’s syndrome. His elder brother has also got similar diseases from age 14. Here both associations of these diseases with positive family history are highlighted.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i1.19425
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27

Ojeda, Mara J., Susana M. Perez, Karina L. Calvo, et al. "Hemoglobin Interlaken in combination with beta thalassemia trait." Thalassemia Reports 3, no. 1 (2013): 3. http://dx.doi.org/10.4081/thal.2013.e3.

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28

Rauf, Shan-e., Ghassan Umair Shamshad, Fareeha Mushtaq, Saleem Ahmed Khan, and Nadir Ali. "Diagnosing Beta Thalassemia trait in a developing country." Acta Haematologica Polonica 48, no. 1 (2017): 18–22. http://dx.doi.org/10.1016/j.achaem.2017.01.001.

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29

Demir, A. "Serum Transferrin Receptor Levels in Beta-thalassemia Trait." Journal of Tropical Pediatrics 50, no. 6 (2004): 369–71. http://dx.doi.org/10.1093/tropej/50.6.369.

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Charoenboon, Chitrakan, Phudit Jatavan, Kuntharee Traisrisilp, and Theera Tongsong. "Pregnancy outcomes among women with beta-thalassemia trait." Archives of Gynecology and Obstetrics 293, no. 4 (2015): 771–74. http://dx.doi.org/10.1007/s00404-015-3908-6.

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31

Sari, Dian Puspita, Pustika Amalia Wahidiyat, Iswari Setianingsih, Ina S. Timan, Djajadiman Gatot, and Aria Kekalih. "Hematological Parameters in Individuals with Beta Thalassemia Trait in South Sumatra, Indonesia." Anemia 2022 (May 5, 2022): 1–6. http://dx.doi.org/10.1155/2022/3572986.

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Background. β-Thalassemia has a very wide clinical variation, depending on the severity of the patient’s condition. Individuals with β-thalassemia traits are usually asymptomatic; however, laboratory examination will show mild anemia with microcytic hypochromic erythrocytes morphology with wide variation depending on the genotype. This study was conducted to determine the reference value of hematological parameters and hemoglobin (Hb) analysis based on the phenotype of β-thalassemia (β0 and β+) and determine the differences of hematological characteristics between the two phenotypes. Methods.
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Meshram, Pravin M., Hemant R. Kokandakar та Rajan S. Bindu. "Study of blood indices and high performance liquid chromatography (HPLC) in differentiation of β-thalassemia trait and iron deficiency anaemia". International Journal of Research in Medical Sciences 5, № 11 (2017): 4728. http://dx.doi.org/10.18203/2320-6012.ijrms20174666.

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Background: Iron deficiency anemia (IDA) and beta thalassaemia trait (BTT) are two of the most common causes of microcytic anemia.It is essential to differentiate between the two, so as to avoid unnecessary iron therapy which is contraindicated in beta thalassaemia .We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and 𝛽-TT in the same patient groups .Methods: A total of 200 patients were evaluated. We calculated 6 discrimination indices in all patients with anemia or suspected beta thalassemia. None of the subjects had combined IDA and
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Kurutaş, Ergul Belge, Mehmet Emrah Aksan, Petek Curuk, and Mehmet Akif Curuk. "Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report." Folia Medica 63, no. 5 (2021): 697–703. http://dx.doi.org/10.3897/folmed.63.e55627.

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Background: Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the “thalassemia belt” which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. Materials and Methods: In this study; 5
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Gopchade, Dr Ajeet. "Mentzer Index for Differential Diagnosis of Iron Deficiency anaemia and Beta Thalassemia Trait." Journal of Medical Science And clinical Research 04, no. 12 (2017): 15138–42. http://dx.doi.org/10.18535/jmscr/v4i12.135.

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35

Verma, Sarika, Ruchika Gupta, Madhur Kudesia, Alka Mathur, Gopal Krishan, and Sompal Singh. "Coexisting Iron Deficiency Anemia and Beta Thalassemia Trait: Effect of Iron Therapy on Red Cell Parameters and Hemoglobin Subtypes." ISRN Hematology 2014 (March 12, 2014): 1–5. http://dx.doi.org/10.1155/2014/293216.

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Background. Coexistence of iron deficiency anemia (IDA) and beta thalassemia trait (BTT) has been the topic of few studies. However, no study from our country was found evaluating the effect of iron therapy in patients with concomitant IDA and BTT. Methods. Over a period of two years, 30 patients with concomitant IDA and BTT were included. All the patients had a complete blood count, serum iron studies, and thalassemia screening using BIORADTM hemoglobin testing system. The patients received oral iron therapy in appropriate dosages for a period of twenty weeks, after which all the investigatio
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Warghade, Sandeep, Jyothi Britto, Reshma Haryan, et al. "Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases." Journal of Laboratory Physicians 10, no. 01 (2018): 073–79. http://dx.doi.org/10.4103/jlp.jlp_57_17.

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Abstract CONTEXT: Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders. AIM: The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India. MATERIALS AND METHODS: A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The ret
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Jha, R. "Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography." Journal of Pathology of Nepal 5, no. 10 (2015): 850–58. http://dx.doi.org/10.3126/jpn.v5i10.15642.

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Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies. Cellulose acetate electrophoresis at alkaline pH and diagnosis based mainly on visual impression of thickness of band may miss the thalassemic trait patients. The aim of this study was to find out different hemoglobinopathies and thalassemia presenting in our hospital and to compare electrophoresis results with HPLC.Materials and Methods: Thi
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Ambayya, Angeli, Santina Sahibon, Thoo Wei Yang, Qian-Yun Zhang, Rosline Hassan, and Jameela Sathar. "A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits." Diagnostics 11, no. 11 (2021): 2163. http://dx.doi.org/10.3390/diagnostics11112163.

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Thalassemia is one of the major inherited haematological disorders in the Southeast Asia region. This study explored the potential utility of red blood cell (RBC) parameters and reticulocyte cell population data (CPD) parameters in the differential diagnosis of α and β-thalassaemia traits as a rapid and cost-effective tool for screening of thalassemia traits. In this study, a total of 1597 subjects (1394 apparently healthy subjects, 155 subjects with α-thalassaemia trait, and 48 subjects with β-thalassaemia trait) were accrued. The parameters studied were the RBC parameters and reticulocyte CP
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39

Arora, Sheetal, Deepshikha Rana, Sujata Raychaudhuri, and J. S. Dhupia. "Coexistence of iron deficiency and thalassemia trait: a study in antenatal females." International Journal of Research in Medical Sciences 5, no. 12 (2017): 5362. http://dx.doi.org/10.18203/2320-6012.ijrms20175455.

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Background: Thalassemia is most common genetic disorder worldwide and about 7% of world population is carrier. The prevalence of Beta thalassemia trait (BTT) is 3.5–10% in India. The National Family Health Survey (NFHS-3) of 2011 reveals the prevalence of iron deficiency anemia (IDA) as 70–80% in children, 70% in pregnant women, and 24% in adult men. As both of them are close differential diagnosis and both can coexist together, this study aims to detect hemoglobinopathies in pregnant women and quantify the effect of iron deficiency on HbA2 levels in order to improve the detection of β thalass
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40

K, Sudha, Prabhakaran N, Sowndarya K, and Durga Rao. "Metalloprotein status in Indian patients with beta thalassemia trait." Biomedicine 42, no. 3 (2022): 474–77. http://dx.doi.org/10.51248/.v42i3.1427.

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Introduction and Aim: Beta Thalassemia trait (BTT) is the most prevalent heterozygous hemoglobinopathy in Asian population. The current study aims to evaluate plasma antioxidant metalloproteins like SOD, ceruloplasmin, ferritin and correlate them with the trace elements in patients with BTT. Materials and Methods: The subjects included in the study were divided into two groups comprising of 40 BTT patients in group I and 40 age and sex matched normal individuals in group II. Cation exchange HPLC was used for hemoglobin variant analysis. Plasma iron, copper, ceruloplasmin and SOD were assayed u
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41

N, Prabhakaran, Sudha K, Reshma K, and Durgarao Y. "PLASMA TRACE ELEMENT STATUS IN BETA-THALASSEMIA TRAIT PATIENTS." Asian Journal of Pharmaceutical and Clinical Research 12, no. 1 (2019): 232. http://dx.doi.org/10.22159/ajpcr.2018.v12i1.28922.

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Objective: The study aims to evaluate the plasma trace element status in beta-thalassemia trait (BTT) patients and demonstrate the correlation between trace elements and hemoglobin (Hb)-A1, HbA2, and HbF.Methods: The study population consisted of 20 normal individuals and 40 patients with BTT aged between 25 and 55 years of both the sex. Hemoglobin variant analysis was performed in blood samples using cation exchange high-performance liquid chromatography. Patients were labeled as beta-thalassemia trait only if they had HbA2 >3.5% or HbF >2.0%. Plasma zinc was estimated by atomic absorpt
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42

N, Prabhakaran, Sudha K, Reshma K, and Durgarao Y. "PLASMA TRACE ELEMENT STATUS IN BETA-THALASSEMIA TRAIT PATIENTS." Asian Journal of Pharmaceutical and Clinical Research 12, no. 1 (2019): 232. http://dx.doi.org/10.22159/ajpcr.2019.v12i1.28922.

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Objective: The study aims to evaluate the plasma trace element status in beta-thalassemia trait (BTT) patients and demonstrate the correlation between trace elements and hemoglobin (Hb)-A1, HbA2, and HbF.Methods: The study population consisted of 20 normal individuals and 40 patients with BTT aged between 25 and 55 years of both the sex. Hemoglobin variant analysis was performed in blood samples using cation exchange high-performance liquid chromatography. Patients were labeled as beta-thalassemia trait only if they had HbA2 >3.5% or HbF >2.0%. Plasma zinc was estimated by atomic absorpt
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43

Beyan, Cengiz, Kürşat Kaptan, and Ahmet Ifran. "Discrimination indices as screening tests for beta-thalassemia trait." Annals of Hematology 87, no. 1 (2007): 61–62. http://dx.doi.org/10.1007/s00277-007-0338-y.

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44

Odah Al-Musawi, Ali Habeeb, Hussein Mohammed Aziz, Safa Khudair, and Tahreer Hadi Saleh. "Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq." Biomedicine 42, no. 5 (2022): 1040–43. http://dx.doi.org/10.51248/.v42i5.2280.

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Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients.
 
 Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collecte
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Gadhia, Pankaj K., Salil N. Vaniawala, and Tushar B. Kachhadiya. "Prevalence of beta thalassemia mutations in population of Gujarat using amplification-refractory mutation system–polymerase chain reaction." International Journal Of Community Medicine And Public Health 6, no. 8 (2019): 3294. http://dx.doi.org/10.18203/2394-6040.ijcmph20193443.

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Background: Beta thalassemia is the most common genetic disorder in India. Its trait, coinheritance and mutations vary from mild to severe condition, resulting in thalassemia minor (heterozygous), intermediate and major depending upon many factors. The objective of this study was to find out the prevalence rate and the carrier of beta thalassemia in population of Gujarat using molecular genetic analysis of beta thalassemia patients by targeted mutation assay (ARMS-PCR).Methods: A total 105 samples for beta thalassemia were analysed for IVS 1-5 (G→C) and CD 15 (G→A) mutations. These two common
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46

Pandey, Sanjay, Rahasya Mani Mishra, Sweta Pandey, Vineet Shah, and Renu Saxena. "Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients." Sao Paulo Medical Journal 130, no. 4 (2012): 248–51. http://dx.doi.org/10.1590/s1516-31802012000400008.

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CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northwestern India and usually present with mild hemolytic anemia and mild to moderate splenomegaly. The heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or beta-thalassemia produces clinically significant conditions like thalassemia intermedia of moderate severity. Under heterozygous conditions with coinheritance of alpha and beta-thalassemia, patients show a degree of clinical variability. Thus, our aim was to molecularly characterize the Hb D trait among individuals who
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47

Bunyaratvej, A., P. Butthep, N. Sae-Ung, S. Fucharoen, and Y. Yuthavong. "Reduced deformability of thalassemic erythrocytes and erythrocytes with abnormal hemoglobins and relation with susceptibility to Plasmodium falciparum invasion." Blood 79, no. 9 (1992): 2460–63. http://dx.doi.org/10.1182/blood.v79.9.2460.2460.

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Abstract A number of genetically variant erythrocytes showed decreased deformability of both intact cells and membranes prepared therefrom as measured by laser diffractometry. Erythrocytes associated with minor or no clinical symptoms (eg, alpha-thalassemia traits, hemoglobin [Hb] E trait, Hb Constant Spring trait), which showed only a minimal decrease in deformability, were, in general, invaded efficiently by the malarial parasite Plasmodium falciparum. Other variant erythrocytes (beta- thalassemia/Hb E, homozygous Hb E, homozygous Hb Constant Spring, Hb H, Hb H/Hb Constant Spring) with low d
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48

Bunyaratvej, A., P. Butthep, N. Sae-Ung, S. Fucharoen, and Y. Yuthavong. "Reduced deformability of thalassemic erythrocytes and erythrocytes with abnormal hemoglobins and relation with susceptibility to Plasmodium falciparum invasion." Blood 79, no. 9 (1992): 2460–63. http://dx.doi.org/10.1182/blood.v79.9.2460.bloodjournal7992460.

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A number of genetically variant erythrocytes showed decreased deformability of both intact cells and membranes prepared therefrom as measured by laser diffractometry. Erythrocytes associated with minor or no clinical symptoms (eg, alpha-thalassemia traits, hemoglobin [Hb] E trait, Hb Constant Spring trait), which showed only a minimal decrease in deformability, were, in general, invaded efficiently by the malarial parasite Plasmodium falciparum. Other variant erythrocytes (beta- thalassemia/Hb E, homozygous Hb E, homozygous Hb Constant Spring, Hb H, Hb H/Hb Constant Spring) with low deformabil
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49

Patil, Supriya, J. P. Laddha, R. R. Soni, Ashish Tayde, and Ashish Patil. "STUDY OF SPECTRUM OF HEMOGLOBINOPATHIES IN ADULT AGE GROUP DIAGNOSED ON HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN TERTIARY CARE HOSPITAL." International Journal of Advanced Research 10, no. 10 (2022): 1087–95. http://dx.doi.org/10.21474/ijar01/15584.

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Background: Inherited abnormalities of hemoglobin synthesis (hemoglobinopathies) include a myriad of disorders ranging from thalassemia syndromes to structurally abnormal hemoglobin variants. Aims and Objectives: To study spectrum of hemoglobinopathies in adult age group diagnosed on HPLC in tertiary care hospital. Materials and Methods: The present study carried out in the deparment of pathology , DR PDMMC AMRAVATI over a period of 18 months from january 2021 to june 2022. A total of 800 cases were included in the present study. The age group of patients ranged from 19 years and above. HPLC ,
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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 alkali
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