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

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          Abstract

          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.

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          Author and article information

          Journal
          J Clin Diagn Res
          J Clin Diagn Res
          Journal of Clinical and Diagnostic Research
          JCDR
          Journal of Clinical and Diagnostic Research : JCDR
          JCDR Research and Publications (P) Limited (Delhi, India )
          2249-782X
          0973-709X
          September 2017
          01 September 2017
          : 11
          : 9
          : GD01-GD03
          Affiliations
          [1 ] Chief Scientific Officer (CSO), Molecular Genomics, Supratech Micropath Laboratory and Research Institute , Ahmedabad, Gujarat, India.
          [2 ] Research Scientist, Supratech Micropath Laboratory and Research Institute , Ahmedabad, Gujarat, India.
          [3 ] Senior Scientist, Supratech Micropath Laboratory and Research Institute , Ahmedabad, Gujarat, India.
          [4 ] Laboratory Director, Supratech Micropath Laboratory and Research Institute , Ahmedabad, Gujarat, India.
          [5 ] Ex. Director, School of Sciences, Gujarat University , Ahmedabad, Gujarat, India.
          Author notes
          NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR: Dr. Sandhip C Shah, Supratech Micropath Laboratory and Research Institute, Kedar Complex, Opp. Krupa Petrol Pump, Near Parimal Garden, Ahmedabad-380006, Gujarat, India. E-mail: supratech18@ 123456gmail.com
          Article
          PMC5713756 PMC5713756 5713756
          10.7860/JCDR/2017/26068.10674
          5713756
          28764195
          © 2017 Journal of Clinical and Diagnostic Research
          Categories
          Genetics Section
          Case Report

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