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Beta-thalassemia mutations in western India
J J Sheth1, F J Sheth, Pooja Pandya
1FRIGE Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. jshethad1@sancharnet.in
Objective:
To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities.
Methods:
The mutation screening was carried out using ARMS-PCR in children with beta thalassemia.
Results:
Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat.
Conclusion:
Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
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