ArticleIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2018
Prenatal Diagnosis of HbE-β-Thalassemia: Experience of a Center in Western India.
Article in Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Article
- New thalassemia mutations from West Bengal.The Indian journal of medical research · 2025Article
- Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2021Article
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Abstract
The clinical presentation of HbE-β-thalassemia is extremely variable, however, many cases are severe and transfusion dependent. We offered prenatal diagnosis to 108 couples, 20 of whom came prospectively. CVS was done in 93 cases (9.5-13 weeks of gestation) while amniocentesis/cordocentesis was done for 15 cases in the second trimester. Diagnosis was done by reverse dot blot hybridization, ARMS, DNA sequencing and in a few cases by HPLC analysis of fetal blood. The genetic combinations in the couples at-risk were the following: HbE trait/β-thal trait-95, HbE-thal/HbE trait-5, HbE homozygous/β-thal trait-3, HbE-thal/β-thal trait-3, HbE Lepore/β-thal trait-1, HbE trait/HbD
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