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.
Highlights
Thalassemias are a heterogeneous group of hemoglobin disorders resulting from either reduced or complete absence of synthesis of globin chains in hemoglobin tetramer.[1]
Various types of mutations in - and –globin genes are responsible for the development of thalassemia
Clinical manifestations of –thalassemia carrier or trait may be without symptoms but HbH disease and Hb Bart’s hydrops fetalis manifest with various symptoms including intrauterine death in the later case
Summary
Depart e t of He atology, Ar ed For es I stitute of Pathology, Dhaka Ca to e t, Dhaka, Ba gladesh. 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. Capillary hemoglobin electrophoresis showed the hemoglobin patterns which were in favor of the diagnosis of combined heterozygous alpha and beta thalassaemia carrier. 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. Cite this arti le: Rah a MM, Kha L. Ba ga a dhu Sheikh Muji Med U i J. Copyright: The opyright of this arti le is retai ed y the author s [Attri utio CC-BY . A glajol.i fo A Jour al of Ba ga a dhu Sheikh Muji Medi al U i ersity, Dhaka, Ba gladesh
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