Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh
摘要
We report the prevalence of different mutations in the hemoglobin subunit beta (HBB) gene of 133 children with beta-thalassemia and 23 children with sickle cell disease (SCD), most of them belonging to the states of Uttar Pradesh (UP), Jharkhand, Chhattisgarh and Bihar. IVS 1–5 was the most common mutation (n = 42) followed by CD41/42 (n = 4) and CD8/9 (n = 4). Notably, some mutations like c.47G>A, c.51del and c.123delT not previously reported from UP were found.