Abstract:Abstract: Objective:To investigate the genotype and mutation frequency of thalassemia in child patients of Shenzhen region so as to provide evidences for the gene diagnosis and genetic counseling of thalassemia. Methods:A total of 1 206 child patients suspected with thalassemia were retrospectively analyzed. The gene deletion of α-thalassemia was detected by GapPCR. The point mutations of α-thalassemia and β-thalassemia were determined by reverse dot blot(RDB)PCR. The specimens suspected with HKαα and rare gene mutations were determined with nested PCR and gene sequencing, respectively. Results:The detection rate of thalassemia was 76.9%(927/1 206). Among them, α-thalassemia accounted for 40.5%(489/1 206), and --SEA/αα was the most common gene mutation(75.1%); β-thalassemia accounted for 33.7%(406/1 206), and the main IVS-2-654(C→T) and CD41-42(TCTT) heterozygous mutations accounted for 35% and 32.5%, respectively. In addition, there were 32(2.7%) β-thalassemia patients with α-thalassemia mutation, 1 patient with HKαα/ααQS, 1 α-thalassemia patient with CD61(AAG→TAG)/--SEA and 1 β-thalassemia patient with CD5(CCT→C). Conclusion:The are complicated gene mutation types and rare gene mutations of thalassemia in child patients of Shenzhen region.