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

Abstract excerpt

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...

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