Co-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia

Background: the double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. in addition, definite characterization of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genetic counseling.materials and methods: an iranian couple with low hematological indices was analyzed for α-globin gene deletions using multiplex gap pcr method and β-globin gene mutations by arms-pcr method and dna sequencing.results: the -20.5kb α-globin gene deletion was found in both individuals, and the ivsi-110(g>a) mutation in β- globin gene in male partner. the β -globin gene sequence was normal in female partner. therefore, the couple was informed about the risk of having fetuses with hemoglobin bart’s hydrops fetalis.conclusion:the co-inheritance of α/β thalassemia should be considered in genetic counseling of families screened for β-thalassemia major prevention