Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh

• DOI: 10.1007/s13312-024-3336-4
• Publication Date: 2024-12-18T09:39:47Z
• Authors: Priyanka Aggarwal; Akhtar Ali; Vineeta Gupta
• Keywords: Uttar pradesh; Beta thalassemia; Hemoglobinopathy; Beta-thalassaemia

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.