Abstract

Coexistence of thalassemia, hemoglobinopathies and malaria has interested geneticists over many decades. The present study represents such a population from the eastern Indian state of Orissa. Children and their siblings (n=38) were genotyped for β-thalassemia mutations and genotype-phenotype correlation was determined. The major genotype was IVS 1.5 mutation: 26% homozygous (n=10) and 37% (n=14) double heterozygous with other mutations or hemoglobinopathies. Sickle hemoglobin was the major associated hemoglobinopathy (n=12, 32%). Other mutations found were Cd 8/9, HbE and Cd 41/42. The study population did not contain any IVS 1.1 mutations which is the second major Indo- Asian genotype. Genotype-phenotype correlation revealed that genotypes of IVS 1.5, Cd 8/9 Cd 41/42 alone or in association, exhibit severe, moderate and mild severity of thalassemia, respectively. Identification of the mutation at an early age as a part of new born screening and early intervention may help reduce the thalassemia-related morbidity.

Details

Title
Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population
Author
Sahu, Praveen Kishore; Sudhanshu Shekhar Pati; Mishra, Saroj Kanti
Section
Brief Reports
Publication year
2012
Publication date
May 2012
Publisher
MDPI AG
ISSN
20388322
e-ISSN
20388330
Source type
Scholarly Journal
Language of publication
Italian; English
ProQuest document ID
2438834663
Copyright
© 2012. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.