Article

Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.

Department of Haematology, Christian Medical College, Vellore, Tamilnadu, India.
Clinical Genetics (impact factor: 3.13). 05/2008; 73(4):331-7. DOI:10.1111/j.1399-0004.2008.00973.x
Source: PubMed

ABSTRACT Beta thalassaemia is a major public health problem in India. A comprehensive database of the spectrum of mutations causing beta thalassaemia in the Indian population is necessary. This study in which a large number of patients with beta thalassaemia including those from certain regions that were not explored earlier shows a great heterogeneity of mutations. Several novel and rare alleles that have not been reported earlier in the Indian population have been identified, and mutations differ in frequency in different regions of the country. This information on the spectrum of mutations has implications for the control of beta thalassaemia in a population with complex ethnic background and also on the genotype-phenotype correlation of the disease.

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Keywords

beta thalassaemia
 
certain regions
 
complex ethnic background
 
comprehensive database
 
different regions
 
explored
 
genotype-phenotype correlation
 
great heterogeneity
 
major public health problem
 
mutations
 
rare alleles