Study of prenatal gene diagnosis of α-thalassemia in Fuzhou area

Objective To investigate the clinical application value of prenatal gene diagnosis on the couples at high risk of having alpha-thalassemia.Methods A single-tube multiplex-PCR assay was used to detect the amniotic fluid(or umbilical blood) thalassemia gene in 19 cases risk fetus whose parents are both heterozygote with alpha-thalassemia.Results In all 19 cases of fetus for alpha-thalassemia,eight cases of--SEA/--SEA homozygote,three cases of--SEA/αα,two cases of-α3.7/αα,one cases of-α4.2/αα,one cases of-α4.2/--SEA,one case of-α3.7/--SEA and three normal fetus were included.Conclusion Single-tube multiple-PCR assay can make a rapid and accurate prenatal diagnosis of alpha-thalassemia.It has significant value for prenatal diagnosis of thalassemia to prevent birth of child with severe thalassemia.