Abstract
Hb E/β-thalassemia is one of the most common forms of hemoglobinopathies worldwide. This life-threatening genetic disorder is not completely curable. This study aims to investigate the correlation of mutations with clinical manifestations among the transfusion dependent Hb E/β- thalassemia patients using molecular, hematological and biochemical methods. A total of 60 blood samples were collected from regular blood transfusion-dependent HbE/β-thalassemia patients. Mutations within HBB gene were analysed by Sanger sequencing, BLAST 2.0, HbVar database and Alibaba 2.1. Clinical data were analysed based on CBC, Hemoglobin Electrophoresis and Serum Ferritin assay. Results demonstrate that a total of three mutationsdeletion of A (+23bp in HBB promoter region), c.9 T>C and c.79 G>A were detected among the study population, where deletion of A (+23bp in HBB promoter region) is a novel mutation. A total of three (USF, AP-1 and GATA-1) important putative binding sites were identified within the mutated region of HBB gene. Hematological analysis also showed remarkable correlation between the mutations and clinical manifestations in the patients. Reduced levels of RBC, Hb, MCV and MCH were found among the patients than the normal. Highly increased level of serum ferritin was also found among the patients due to the frequent destruction of RBCs. In conclusion, the findings of this study will be helpful to understand the mutational and hematological status of HbE/β-thalassemia patients. And this study will also be beneficial for effective molecular drug designing, drug response and other therapeutic approach for HbE/β-thalassemia patients.
 Jahangirnagar University J. Biol. Sci. 9(1 & 2): 109-121, 2020 (June & December)
Highlights
Thalassemia is an inherited blood disorder affected by an abnormal form of hemoglobin
The mutational and clinical data of the thalassemia patients are not adequate in Bangladesh, the present study aimed to investigate the correlation of genetic polymorphisms in HBB gene with clinical manifestations among the blood transfusion dependent hemoglobin E (HbE)/β-thalassaemia patients in Bangladesh
Discussion on mutational analysis: A total of three mutations were identified among the transfusion dependent HbE/β-thalassemia patients
Summary
Thalassemia ( known as Mediterranean anemia, Cooley’s anemia, Beta-thalassemia or Alpha thalassemia) is an inherited blood disorder affected by an abnormal form of hemoglobin. This specific type of blood disease results in excessive destruction of red blood cells which in turn leads to anaemia (Weatherall et al, 1996). This cryptic splice site (related to HbE) is not normally used for mRNA processing This new splice site competes with the normal splice site and produces a protein with a Lys instead of a Glu at position 26 (Weatherall, 2000). The primary clinical importance of HbE trait arises when the βE allele interacts with other β-thalassaemia mutations leading to moderate-to-severe anaemia known as HbE/βthalassaemia (Orikin et al, 1982)
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