Qian Xiong1, Xi-Jiang Hu1, Xiang Dai1, Bin Zhou1, Wen-Qian Cai2. 1. Wuhan Children's Hospital（Wuhan Maternal and Child Healthcare Hospital）, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China. 2. Wuhan Children's Hospital（Wuhan Maternal and Child Healthcare Hospital）, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China.E-mail: vickytsai.talent@hotmail.com.
Abstract
OBJECTIVE: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology. METHODS: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay. RESULTS: There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively. CONCLUSION: β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.
OBJECTIVE: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology. METHODS: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay. RESULTS: There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively. CONCLUSION: β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.