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The Prevalence Of ?-Thalassemia Mutations in South Western Maharashtra.


ABSTRACT: 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 ?-thalassemia mutations in India was defined in 126 ?-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common ?-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 ?-globin gene. These mutations accounted for 93.66 % in 126 ?-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 ? thalassemia mutations from south-western Maharashtra, which will help to prevent ?-thalassemia using prenatal diagnosis and proper counseling.

PROVIDER: S-EPMC3477466 | BioStudies |

REPOSITORIES: biostudies

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