A retrospective survey on molecular epidemiological of α and β thalassemia among infertile patients in Shenzhen City

Objective: To investigate and evaluate the gene carrier rate,mutation types of α and β thalassemia among infertile patients in Shenzhen City.Methods: Peripheral venous blood samples were collected from 7358 infertile patients.Deletion genotypes of α thalassemia were determined by using Gap-PCR and electrophoresis assay,β thalassemia genotyping were diagnosed by PCR combined with reverse dot blot(RBD) method.Results: After analyzed,the thalassemia total carrier rate of infertile patients was 9.01% in Shenzhen city,6.58% for α thalassemia,2.69% for β thalassemia mutation and 0.27% for β thalassemia combining α thalassemia.The three prioritized genotypes of α thalassemia were——SEA/αα,-α3.7/αα,-α4.2/αα,account for 98.55%.The most common five types of β thalassemia mutation in Shenzhen were CD41-42(-TCTT),IVS-II-654(C→T),-28(A→G),CD17(A→T),βE CD26(G→A),which was 92.42%.Conclusions: The incidence of thalassemia among infertile patients in Shenzhen City was high.Investigated results provided valuable basic data for genetic counseling,preimplantation genetic diagnosis and antenatal diagnosis.