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Godbole, K.G. and Angelina, R. and Karkamkar, A.S. and Dalal, Ashwin (2018) Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family. Hemoglobin, 42 (2). pp. 141-142. ISSN 0363-0269

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Abstract

While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 18 Apr 2018 18:29
Last Modified: 26 Sep 2018 20:22
URI: http://cdfd.sciencecentral.in/id/eprint/838

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