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

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.

Keywords:

• β-Thalassemia (β-thal)
• Novel and rare mutations
• Haplotype
• India