The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.

Abstract

α-thalassemia is a hereditary hemolytic anemia, in which the clinical manifestations vary greatly depending on the degree of α-globin gene deletion. -α3.7/--SEA thalassemia is an intermediate type of α-thalassemia, with three α-globin genes deletion. The clinical symptoms of -α3.7/--SEA thalassemia vary from mild to moderate anemia [1]. However, little studies had reported the diagnosis and clinical symptoms of -α3.7/--SEA thalassemia. Here we reported two cases of -α3.7/--SEA thalassemia, one inpatient for chronic headache and one outpatient for elevated bilirubin. Two patients were first subjected to blood test, and the laboratory data showed the decreased hemoglobin concentration and mean corpuscular volume. Peripheral blood cells smear displayed that the mature red blood cells were markedly different in size, with enlarged central pale area, occasional oval red blood cells, suggesting the potential microcytic hypochromic anemia. Hemoglobin electrophoresis displayed the low level of HbA2, indicating the α-thalassemia or δ-thalassemia. Reverse dot blot hybridization assay detected the deletion of α-globin genes in the two cases. After ameliorative treatment for anemia, the inpatient's headache was significantly relieved and stable. Comprehensive judgment of clinical symptoms and laboratory test results is applicative for -α3.7/--SEA thalassemia diagnosis. -α3.7/--SEA thalassemia may lead to individual differences in clinical symptoms and complications, which requires more attention and early treatment.