Beta-thalassemia mutations in western India.
Sheth, J J; Sheth, F J; Pandya, Pooja; Priya, Rashi; Davla, Sejal; Thakur, Chitra; Flavin, Vaz.
Indian J Pediatr
; 2008 Jun; 75(6): 567-70
Artigo
em Inglês
| IMSEAR | ID: sea-84050
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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