Document Detail

Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population.
MedLine Citation:
PMID:  22826799     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Praveen Kishore Sahu; Sudhanshu Shekhar Pati; Saroj Kanti Mishra
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Publication Detail:
Type:  Journal Article     Date:  2012-06-26
Journal Detail:
Title:  Hematology reports     Volume:  4     ISSN:  2038-8330     ISO Abbreviation:  Hematol Rep     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-07-24     Completed Date:  2012-10-02     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101556723     Medline TA:  Hematol Rep     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  e9     Citation Subset:  -    
Department of Biochemistry and Molecular Biology, Ispat General Hospital, Rourkela, Orissa;
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