Article
Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh.
Indian pediatrics - 15 Dec 2024
Aggarwal Priyanka, Ali Akhtar, Gupta Vineeta
Abstract excerpt
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...
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