汕尾市育龄人群中α、β地中海贫血基因型的分布调查

Distribution of alpha and beta thalassaemia genotypes in childbearing age people in Shanwei

目的 了解汕尾市育龄人群中α、β地中海贫血基因型的分布情况.方法 采用整群抽样方法选择2013年1月1日至2013年12月31日各地区部分住院分娩和引产的孕产妇、配偶共计1200例作为研究对象,分别进行α-地中海贫血和β-地中海贫血调查.结果 在1200份血液标本中共计检测出6种α-地中海贫血基因型,共计62例,63个等位基因,α-地中海贫血基因携带率为5.25％（63/1200）.其基因型构成比：-a3.7/aa 31个,占总数的49.21％;-aSEA/aa 18个,占总数的28.57％;-a4.2/aa 7个,占总数的11.11％;-aTHAI/aa 2个,占总数的3.17％;--SEA/--SEA 3个,占总数的4.76％;--aCSa/aa2个,占总数的3.17％.有13例患者检测出携带β-地中海贫血基因,β-地中海贫血基因携带率为1.08％.基因类型共有5种,其构成比：IVS-2-654（C→T）和-28（A→G）各23.08％,CD41/42（-TCTT）30.77％,CD17（A→T）15.38％,βECD26（C→A）7.69％.结论 汕尾市区α-地中海贫血基因携带率和β-地中海贫血基因携带率从整个省份来讲相对较低,但分析自身数据来看携带率还是较高,主要发生在遗传背景较复杂的地区,并主要以本地人群为主.

objective To understand the distribution of alpha and beta thalassaemia genotypes in childbearing age people in Shanwei.Methods Pregnant woment and their spouses 1200 cases were chosen from the hospitals of each area from January 1st to December 1st 2013 as study objects using cluster sampling method.Alpha beta thalassaemia were investigated respectively.Results Among the 1200 blood samples,6 kinds of alpha thalassaemia genotypes were detected,with a total of 62 cases,63 alleles.The alpha thalassaemia gene carrying rate was 5.25% （63/1200）.The genotype composition：31-a3.7/aa,49.21% of the total; 18-aSEA/aa,28.57% of the total; 7-a4.2/aa,11.11% of the total; 2-aTHAI/aa,3.17% of the total; 3--SEA/--SEA,4.76% of the total; 2-aCSa/aa,3.17% of the total.13 cases were detected with beta thalassemia gene,with a beta thalassemia gene carrying rate of 1.08%.There were five genetic types of beta thalassemia gene including IVS-2-654 （C → T） and-28 （A → G） （both accounted for 23.08%）,CD41/42 （-TCTT） （30.77%）,CD17 （A → T） （15.38%）,and beta ECD26 （C → A） （7.69%）.Conclusions The alpha thalassaemia gene carrying rate and beta thalassaemia carrying rate of Shanwei are relatively lower among the whole province.However,but the analysis of the data showed that the carrying rate was high,thalassaemia genes were carried mainly by people,most of which are natives,in regions with complex genetic background.