دورية أكاديمية

Is Estimation of HbA2 Alone Sufficient for Screening Beta Thalassaemia Carriers: A Case in Perspective

التفاصيل البيبلوغرافية
العنوان: Is Estimation of HbA2 Alone Sufficient for Screening Beta Thalassaemia Carriers: A Case in Perspective
المؤلفون: Beena Suresh, Umarani Ravichandran, Sujatha Jagadeesh
المصدر: Journal of Clinical and Diagnostic Research, Vol 17, Iss 12, Pp 01-03 (2023)
بيانات النشر: JCDR Research and Publications Private Limited, 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
مصطلحات موضوعية: anaemia, heterozygous carrier, molecular testing, prenatal testing, Medicine
الوصف: Beta thalassaemia is one of the most common inherited haemoglobinopathies, characterised by reduced or absent production of the beta globin chain. In India, the carrier frequency of thalassaemia is estimated to be 3-4%. The prevention of Beta thalassaemia is the best strategy, and this can be achieved through carrier screening and prenatal diagnosis. Carriers of beta thalassaemia can be easily identified using haematological parameters such as complete blood count and High Performance Liquid Chromatography (HPLC) for haemoglobin analysis. The characteristic findings observed in thalassaemia carriers include microcytosis, hypochromia, with a Mean Corpuscular Volume (MCV) of less than 80 fL and Mean Corpuscular Haemoglobin (MCH) of less than 28 pg. They also present with elevated levels of HBA2 (α2δ2) ≥3.5%. Carrier screening for beta thalassaemia primarily relies on the observation of elevated HbA2 levels. However, in rare cases, some carriers can have normal HbA2 levels, leading to false-negative screening results. In a case involving a married couple who underwent routine preconceptional screening by complete blood count and HPLC for thalassaemia screening, the male partner had elevated HbA2 levels (5.2%), while the female partner had normal HbA2 levels (1.6%). Molecular testing revealed that the male partner was heterozygous for the Intervening Sequence (IVS) 1-5 (G>C) mutation, while the female partner was found to be heterozygous for the CD41-42 (-CTTT) mutation. It is important to consider molecular testing of the HBB gene in couples, even if one partner is a carrier and the other partner has normal or borderline HbA2 levels.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2249-782X
0973-709X
Relation: https://www.jcdr.net/articles/PDF/18819/67494_CE[Ra1]_F(SL)_QC(KK_RDW_SHU)_PF1(VD_KM_OM)_PFA(VD_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X
DOI: 10.7860/JCDR/2023/67494.18819
URL الوصول: https://doaj.org/article/8616ac873cb24ee6aeaa082c3ccb2cb3
رقم الأكسشن: edsdoj.8616ac873cb24ee6aeaa082c3ccb2cb3
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2249782X
0973709X
DOI:10.7860/JCDR/2023/67494.18819