The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra

摘要

Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common β-thalassemia mutations in India was defined in 126 β-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common β-thalassemia mutations were detected, which included IVS I-5 (G–C), IVS I-1 (G–T), codon 8–9 (+G), codon 41/42 (–TCTT), Codon 15 (G–A), and 619 bp deletion at 3′ end of β-globin gene. These mutations accounted for 93.66 % in 126 β-thalassemia carrier subjects and 6.34 % remained uncharacterized. Out of 126, 82 (65.07 %) showed the most common (prevalent) type of mutation, IVS I-5 (G–C), followed by IVS I-1 (G–T) showed by 12 (9.52 %) subjects. Three (2.38 %) subjects showed 619 bp deletion, codon 8/9 (+G) and codon 15 (G–A) mutations were present in eight subjects each (6.34 %). Only five (3.96 %) subjects showed codon 41/42 (–TCTT). There were eight (6.34 %) subjects where mutation was not any of the six mutations studied. This study provides the pattern of β thalassemia mutations from south-western Maharashtra, which will help to prevent β-thalassemia using prenatal diagnosis and proper counseling.Electronic supplementary materialThe online version of this article (doi:10.1007/s12291-012-0230-y) contains supplementary material, which is available to authorized users.