Analysis of Genetic Screening in Couples of Reproductive Age for Thalassemia in Lingshui Li Autonomous County of Hainan Province / 中国实验血液学杂志

ABSTRACT

OBJECTIVE@#To investigate the genetic carrier rate of thalassemia and its gene mutation types as well as the distribution characteristics among the people in Lingshui Li autonomous county of Hainan province, so as to provide the basis for making the prevention programs of thalassemia in administrative departments.@*METHODS@#Samples were collected from couples undergoing premarital and pregestational screenings, in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were analyzed.@*RESULTS@#The rate of thalassemia gene carriers was 19.41% （274/1412） of the couples of childbearing age in Lingshui Li autonomous County of Hainan Province. In these carriers,α-thalassemia accounted for 83.21%（228/274）, β-thalassemia for 8.03%（22/274）, and both α-and β-thalassemia gene accounted for 8.76% （28/274）.@*CONCLUSION@#The carrying rate of thalassemia gene in population Lingshui Li autonomous county of Hainan province is high, and its distribution has geographical characteristics,the major type is α-thalassemia. Blood screening and genetic diagnosis of thalassemia should be strengthened, and corresponding measures should be taken to reduce its gene frequency.