An investigation to identify the genetic variants associated with beta thalassemia in Bangladeshi population

Beta thalassemia is an inherited blood disorder caused by mutations in the HBB gene, leading to reduced or absent production of beta-globin chains in hemoglobin. This results in chronic anemia, ineffective erythropoiesis, and severe health complications. The genetic spectrum of beta thalassemia varies across populations, making it important to identify prevalent mutations in specific regions like Bangladesh for accurate diagnosis and management. Studies in the Bangladeshi population have identified multiple HBB gene variants, including point mutations, insertions, deletions, and splice site mutations, that contribute to the disease. Common mutations, such as IVS-I-5 (G>C), Codon 26 (G>A), and Codon 41/42 (-TTCT), are associated with varying severity of the disorder. Detecting these variants through molecular genetic techniques, including PCR and sequencing, enables early carrier screening, prenatal diagnosis, and personalized treatment planning, such as transfusion regimens or potential gene therapy approaches.