我院地中海贫血的基因型特点

Genotypic characteristics of thalassemia in our hospital

目的研究我院地中海贫血的基因型特点。方法选取2016年1月~2018年6月在我院接受健康体检及产前检测的1600例受检人员实施项目数据指标分析,采用聚合酶链式反应法+膜杂交法测定全部受检人员的α地中海贫血或β地中海贫血型别,统计检测结果。结果1600例受检人员中,地中海贫血的检出率为47.19%,比较常见的有SEA杂合缺失的α地中海贫血、41-42位点杂合突变的β地中海贫血、3.7杂合缺失的α地中海贫血、654位点杂合突变的β地中海贫血、-28位点杂合突变的β地中海贫血、3.7缺失复合东南亚型缺失的α地中海贫血、17位点杂合突变的β地中海贫血及4.2杂合缺失的α地中海贫血、71-72位点杂合突变的β地中海贫血。结论我院α地中海贫血型别以SEA杂合缺失为主,β地中海贫血型别以41-42位点杂合突变为主,需要加强咨询和干预管理,控制及减少地中海贫血情况。

Objective To study the genotypic characteristics of thalassemia in our hospital.Methods From January 2016 to June 2018,1600 health examinees and prenatal examinees in our hospital were selected and analyzed for item data.Theαthalassemia orβthalassemia types of all the examinees were determined by polymerase chain reaction and membrane hybridization,and the statistical results were obtained.Results Among the 1600 subjects,the detection rate of thalassemia was 47.19%.The most common ones wereαthalassemia with SEA heterozygosity deletion,βthalassemia with 41-42 heterozygosity mutation,αthalassemia with 3.7 heterozygosity deletion,βthalassemia with 654 heterozygosity mutation,βthalassemia with-28 heterozygosity mutation,3.7 deletion combined with Southeast Asia type deletion of alpha thalassemia,17-locus heterozygous mutation of beta-thalassemia and 4.2-locus heterozygous deletion of alpha-thalassemia,71-72 locus heterozygous mutation ofβthalassemia.Conclusion In our hospital,the main type ofαthalassemia is sea heterozygous deletion,and the main type ofβthalassemia is 41-42 heterozygosity mutation.It is necessary to strengthen counseling and intervention management to control and reduce the situation of thalassemia.