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Beta-thalassemia is the most common inherited single-gene disorder in the world, caused by more than 200 known mutations in the  HBB  gene. In India, the average prevalence of β-thalassemia carriers is 3-4%. Several ethnic groups have a much higher prevalence, about 8% in the tribal groups, according to the 2011 census. The study’s main goal is to identify common β-thalassemia mutations and the frequencies of different haplotypes in various communities in North Maharashtra. Nashik district had the highest prevalence of β-thalassemia (34%), followed by Ahmednagar (29%), Jalgaon (16%), Dhule (14%), and Nandurbar (7.0%). Prevalence of β-thalassemia was highest in the schedule caste community (SC) (48%), followed by (17%) in Muslims, (14%) in other backward classes (OBC), (13%) in Schedule Tribe (ST), and (8.0%) in the general population The six most common β-thalassemia mutations detected in this study are IVS 1 &gt; 5 (G→C), Cd 15(G→A), Cd 41/41 (-TCTT), Cd 8/9(+G), IVS 1 &gt; 1(G→T) and Cap + 1(A &gt; G). Among these mutations, IVS 1 &gt; 5 (G &gt; C) was the most common type of mutation found in β-thalassemia patients in the North Maharashtra population. Type-I haplotype was the most prevalent among all communities. Nashik and Ahmednagar districts were highly affected by β-thalassemia. Among different ethnic groups, the SC and Muslim communities were the worst affected with a higher proportion of β-thalassemia and increased frequency of mutations.

Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India