A Compound Heterozygous HBB: C.79G>A Associated with HBB: C.-78A>G Mutation of HBB Gene Leading to Β-Thalassemia Intermedia in A Vietnamese Patient: A Case Study |Biomedgrid

β-thalassemia is an inherited blood disorder that is the most common single-gene disorder worldwide and in Vietnam. This study reports an intermedia β thalassemia patient in a family from Northern Vietnam. The mother has compound heterozygous thalassemia presenting mutation of hemoglobin HBB: c.79G>A associated with HBB: c.-78A>G. The result indicates that the determination of molecular characterization of subjects presenting normal HbA2 level associated with abnormal red cell indices is needed for accurate diagnosis and improved genetic counseling.