The Study of Phenotypes and Genotypes of 69 Cases of αβ Compound Thalassemia

Objective:To analyze the relationship of the phenotypes and genotypes of 69 cases of αβ compound thalassemia and their clinical features,and explore the clinical diagnosis of this complex gene combination.Methods:The hematological indexes were analyzed by standard technology,and the gene spot mutation or deficit in α and β-thalassemia were checked by GAP-PCR and PCR-RDB.Results: The clinical features of 45 cases of mild αβ heterozygote compound thalassemia were similar to those of β-thalassemia carrier.While 24 cases of severe αβ heterozygote compound thalassemia could have different degrees of anemia,and majority of the patients showed intermedia thalassemia.Among 69 cases of αβ compound thalassemia,8 cases of β globin gene mutations and 5 cases of α globin gene mutations were found.Conclusions:Mild αβ compound thalassemia is much like β thalassemia,and the characteristics of α thalassemia are hiden.While severe αβ thalassemia shows similar features of intermedia β-thalassaemia.So when thalassemia is suspected,especially for β-thalassemia carrier,α thalassemia gene should be checked regularly to prevent misdiagnosis,and ensure the accuracy of prenatal diagnosis of thalassemia.