Beta-thalassemia mutations in western India.
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2008-06-14
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Abstract
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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Sheth JJ, Sheth FJ, Pandya P, Priya R, Davla S, Thakur C, Flavin V. Beta-thalassemia mutations in western India. Indian Journal of Pediatrics. 2008 Jun; 75(6): 567-70