Prenatal Screening for Rare Co-Inheritance of HbE and β-Thalassaemia Traits in Western India

The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the o...

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Bibliographic Details
Published in:Journal of clinical and diagnostic research 2017-09, Vol.11 (9), p.GD01-GD03
Main Authors: Shah, Parth S, Ray, Hari Shankar P, Vaghasia, Ketan K, Shah, Sandip C, Rao, Mandava V
Format: Article
Language:English
Subjects:
compound heterozygosity
electrophoresis
genetic testing
phenotypic indices
sequence analysis
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Summary:The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing. It also contained upper levels of HbE with altered Hb and red cell indices showing asymptomatic to symptomatic state requiring blood transfusion periodically. The parents and Chorionic Villus Sampling (CVS) were HbE and β-thalassaemia traits only. Such case is rare in Western India and we recommend this family for genetic counseling and genetic testing before they want reproductive choices in future for better management in a society.
ISSN:2249-782X
0973-709X
DOI:10.7860/JCDR/2017/26068.10674