Study on Type of Gene Mutation and Frequency in 153 Patients with Thalassemia for Prenatal Diagnosis in Fuzhou

[Objective]To study the type of gene mutation and frequency with thalassemia for prenatal diagnosis in Fuzhou.[Methods] The type of gene mutation and frequency in 241 suspected thalassemia patients were analyzed by PCR and reverse dot blot(RDB),prenatal diagnosis was carried out with 4 couple carried——SEA/α αthalassemia.[Results]The positive rate of thalassemia was 63.5%(153/241).Totally 69 cases were α-talassemia(53 cases of——SEA/α α,3 cases of rightward deletion type and 10 cases of-α3.7/——SEA) and 82 cases were β-talassemia(41 cases of IVS2nt654 heterozygote,28 cases of CD4l-42 heterozygote,4 cases of CD17 heterozygote,2 cases of CD41-42/IVS2nt654 double heterozygote,4 cases of-28 heterozygote,2 cases of 27/28 heterozygote and 1 cases of CD 26 heterozygote).Two cases were α-β complex talassemia.Three cases were found——SEA/——SEA in 4 couple.[Conclusion]The type of gene mutation and frequency in α and β thalassemia were found out in Fuzhou.Gene mutation screening and prenatal diagnosis of thalassemia should be carried out for baby health.