[Analysis of Gene Mutation Types of Thalassemia in Fuzhou Area of China].

OBJECTIVE:To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China. METHODS:Thalassemia gene screening was performed in the women receiving physical, prenatal, and pre-pregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR. RESULTS:1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%; 409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-β complex thalassemia with a positive rate of 0.72%. the -- SEA3.74.2CONCLUSION:The genotype of thalassemia in Fuzhou area is highly heterogenic, -- SEA