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Angalena, R. and Prabitha, K.N. and Chaudhary, A.K. and Bashyam, M.D. and Jain, S. and Dalal, Ashwin (2010) A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major. International Journal of Laboratory Hematology, 32 (5). pp. 548-549. ISSN 1751-5521

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We report on a 6-year-old female child, of south Indian origin, and born out of nonconsanguineous union. The child had a history of transfusion dependent anemia since the age of 5 months. There was no history of trans- fusion in either of her parents. Sequencing results revealed a homozygous substitution of A to T at codon 82, i.e.,(HBB:c.247A > T) leading to the formation of a stop codon. Sequencing of parents showed that both were heterozygous for the same mutation. Our case reaffirms the importance of continued screening for and analysis of, other novel mutations causing thalassemia, in the quest for a more complete understanding of the regulation and expression of the globin genes and their products.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 01 Sep 2015 11:50
Last Modified: 15 Sep 2017 07:40
URI: http://cdfd.sciencecentral.in/id/eprint/435

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