Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Table of Contents - Year : 2017 | Month : September | Volume : 11 | Issue : 9 | Page : GD01 - GD03

Prenatal Screening for Rare Co-Inheritance of HbE and -Thalassaemia Traits in Western India GD01-GD03

Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao

Dr. Sandhip C Shah,
Supratech Micropath Laboratory and Research Institute Kedar Complex,
Opp. Krupa Petrol Pump, Nr. Parimal Garden. Ahmedabad - 380006, Gujarat India.
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The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb - 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 -thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ - 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 - 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.