co-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia
نویسندگان
چکیده
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.
منابع مشابه
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 mulpl...
متن کاملCo-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 αand 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 multiple...
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عنوان ژورنال:
iranian journal of blood and cancerجلد ۴، شماره ۲، صفحات ۸۱-۸۴
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