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.