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