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 addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulplex gap PCR method and β-globin gene mutaons by ARMS-PCR method and DNA sequencing. Results: The -20.5kb α-globin gene deleon was found in both individuals, and the IVSI-110(G>A) mutaon 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 genec counseling of families screened for β-thalassemia major prevenon.