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

Beta-thalassemia is the most common inherited single-gene disorder in the world, caused by more than 200 known mutations in the 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.

Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.

HCM is a monogenic cardiac disorder with a high risk of sudden cardiac death, heterogeneous phenotypic expression and genetic profile. HCM is expressed as autosomal dominant in fashion with the prevalence of 1:500 in the general population. The main objective of the current study was to unravel the mutation status in sarcomeric genes in urbanizing Pune population.