Beta-thalassemia mutations in western India.
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.


CONCLUSIONS
Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
Sheth
J J
JJ
FRIGE Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. jshethad1@sancharnet.in
Sheth
F J
FJ
Pandya
Pooja
P
Priya
Rashi
R
Davla
Sejal
S
Thakur
Chitra
C
Flavin
Vaz
V