Identification and Integrative Bioinformatics Analysis of Common and Rare Mutations in the Patients with Transfusion Dependent HbE/b and b-thalassemia in Chittagong, Bangladesh

Background: Thalassemia is an inherited blood disorder that affects hemoglobin’s structure and functions. Among several forms of this life-threatening disorder, HbE/β β-thalassemia are most common in Bangladesh worldwide as well. But the molecular clinical data not adequate regarding underlying cause genetic Bangladesh. So, we aimed to identify mutations within β-globin gene (HBB) investigate correlation with HBB mRNA structure, transcription hematological status among patients transfusion dependent Methods: A total 40 samples were collected from prior taking their consent. Detection was carried out by polymerase chain reaction followed Sanger DNA sequencing method. Identification characterization along effects on analyzed various bioinformatics approaches. In addition, complete count (CBC), hemoglobin electrophoresis done for analysis. Results: c.92+5G>C, c.79G>A c.9T>C identified gene, where c.92+5G>C mutation study patients. Mutations putative factor binding sites revealed severity disease depends upon type its location sequence. analysis showed contribute structural diversity altering folding mechanism ultimately stability function protein β-thalassemia. Conclusions: The level identifying rare structure. We hope will designing effective medicine other therapeutics improve health condition. Medical Res Counc Bull 2022; 48(3): 180-188