Genetic and prenatal gene diagnosis of β-thalassemia. SONG Dan,

Objective To reduce the birth rate of β-thalassemia major and improve the quality of population. Methods 106 cases and 19 pregnant women were screened with hematological data to find out carriers of β-thalassemia . The blood samples of them were analyzed with PCR and reverse dot blot (PCR-RDB). Results Among 106 cases of genetic diagnosis ,there were 52 cases of β-thalassemia, among 19 cases of prenatal gene diagnosis, nine were completely normal while two were with β-thalassemia major(one homozygous and one compound heterozygous) who were aborted after prenatal gene diagnosis. Conclusion PCR-RDB assay is effective in preventing the birth of β-thalassemia major.