11446对新婚夫妇α-地中海贫血筛查结果分析

Analysis on α-thalassemia screening of 11 446 pairs newlyweds

目的报告11 446对新婚夫妇α-地中海贫血(α-地贫)检测结果,了解其基因携带率及分布特征。方法组织受检夫妇抽取静脉血,以平均红细胞体积(MCV)<79fl为地贫表型阳性指标。对其中2891例表型阳性和1820例表型阴性样品进行α-地贫基因分析。结果 22 892例筛查对象中检出表型阳性5265例,阳性检出率23%。在表型阳性组中有2891例做了α基因分析,检出3种缺失型α-地贫基因1379例。在表型阴性组中有1820例做了α基因分析,检出3种缺失型α-地贫基因49例,缺失型α-地贫基因携带率为13.05%。常见3种缺失型α-地贫等位基因频率依次是(--SEA)4.24%、(-α3.7)1.72%、(-α4.2)0.87%。临床常见α-地贫的发生率依次为静止型α-地贫4.26%、标准型α-地贫8.57%、HbH病0.22%。结论本地区为地贫高发区,应将基因分析列入筛查项目,为制定地贫干预方案提供科学依据。

Objective： Report of 11,446 pairs of newlyweds α - thalassemia （α - thalassemia） test results, to understand the genes carry rate and distribution. Methods： Organizations subjects couple venous blood, the mean corpuscular volume （MCV） 〈 79fl thalassemia phenotype as positive indicators. Phenotype of which 2891 cases and 1820 cases of positive samples were negative phenotype of α - thalassemia gene analysis. Results ： 22 892 cases of detected objects phenotypic screening positive 5265 cases, positive detection rate of 23%. In the phenotype α- positive group gene analysis, had 2891 cases made, 3 deletion detected α - thalassemia gene in 1379 cases. In the phenotype α -negative group had 1820 cases made a genetic analysis, 3 deletion detected α -thalassemia gene in 49 cases, deletion α - thalassemia carrier rate 13.05%. 3 common deletion α - thalassemia allele frequency followed （ - -^ SEA ） 4. 24%, （ - α^3.7 ） 1. 72%, （ - α^4.2 ） 0. 87%. Common clinical the incidence of α - thalassemia were stationary α- thalassemia 4. 26%, standard α - thalassemia 8.57%, HbH disease 0. 22%. Conclusion ： High incidence of thalassemia in this region, genetic analysis should be included in screening programs for the development of intervention programs to provide the scientific basis for the poor.