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Hematological and Molecular Analysis of Novel and Rare β-Thalassemia Mutations in the Indian Population
Journal article   Peer reviewed

Hematological and Molecular Analysis of Novel and Rare β-Thalassemia Mutations in the Indian Population

Anita Nadkarni, Ajit Gorakshakar, Reema Surve, Pratibha Sawant, Supriya Phanasgaonkar, Sona Nair, Kanjaksha Ghosh and Roshan B. Colah
Hemoglobin, Vol.33(1), pp.59-65
2009
DOI: https://doi.org/10.1080/03630260802626012
PMID: 19205975

Abstract

A variety of mutations causing β-thalassemia (β-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22 23 24 (−7 bp) (−AAGTTGG), −87 (C>A), codon 15 (−T)] were encountered among 375 β-thal heterozygotes. They were referred to us for molecular characterization or prenatal diagnosis during a period of 2 years. Haplotyping was also done for linkage analysis.

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