Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population

Dipanwita Das; Nandini Chattopadhyay; Arghya Mukherjee; Dhrubajyoti Chattopadhyay; Prantar Chakrabarti; Utpal Chaudhuri; Sila Chakrabarti

doi:10.4081/thal.2013.e4

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Article

13 August 2013

Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population

and

Institute of Haematology and Transfusion Medicine, Medical College, Kolkata

Department of Biotechnology, B.C. Guha Centre for Genetic Engineering, Biotechnology University of Calcutta, Kolkata, India

Author to whom correspondence should be addressed.

Thalass. Rep.2013, 3(1), e4;https://doi.org/10.4081/thal.2013.e4

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Abstract

The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple mutations and its coinheritance with ααα^anti3.7 triplication indicates a possible cause for the clinical severity in β-thalassemia carriers.

Keywords:

hemoglobin (Hb) Hofu; Hb Grange- Blanche; α-thalassemia; Eastern India; highpressure liquid chromatography; β-globin gene; direct DNA sequencing

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