Co-inheritance of ?- and ?-thalassemia in a Bangladeshi family

Abstract

The double heterozygous state of ? and ?thalassemia is a relatively rare genetic disorder in Bangladesh which may alter the hematological indices and modify the phenotypic features of thalassemia. An 8 year old boy of a non-consanguineous couple who inherited both ? and ?thalassemia gene from his parents had presented with only mild anemia. Capillary hemoglobin electrophoresis showed the hemoglobin patterns which were in favor of the diagnosis of combined heterozygous alpha and beta thalassaemia carrier. Although molecular genetic study of the boy confirmed the presence of IVS 15 G>C point mutation for ?thalassemia but could not detect ?thalassemia gene as the sample was tested for only five most common ?thalassemia gene mutation which is not as much prevalent in Bangladesh. However, basing on the family screening and the hemoglobin pattern on capillary hemoglobin electrophoresis, it can be concluded that the boy is certainly carrying both ? and ?thalassemia gene.