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.
题目: 海南省陵水黎族自治县育龄夫妇地中海贫血基因检测结果分析.
目的: 研究海南省陵水黎族自治县人群地中海贫血基因携带率、基因突变类型及其分布情况，为政府部门拟定合适的地中海贫血防控方案提供依据.
方法: 收集陵水县育龄夫妇地中海贫血初筛阳性标本，并检测中国人常见3种缺失型α-地中海贫血基因、3种突变型α-地中海贫血基因、17种β-地中海贫血基因，并分析检测结果.
结果: 陵水县育龄人群地中海贫血基因检出率为19.41%（274/1412），α-地中海贫血占地中海贫血基因携带病例83.21%（228/274），β-地中海贫血占地中海贫血病例8.03%（22/274），α-合并β-地中海贫血占地中海贫血病例8.76%（28/274）.
结论: 陵水黎族自治县地中海贫血基因检出率很高，地中海贫血基因携带情况具有地方特点，主要以α-地中海贫血为主，应加强对地中海贫血的血液筛查与基因诊断，并采取相应措施降低其基因频率.