论文部分内容阅读
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 11 446 The newly married couples α-thalassemia (α-thalassemia) test results to understand the gene carrier rate and distribution characteristics. Methods Totally, venous blood was collected from the couple under test and the mean PLT <79fl was used as the positive indicator of thalassemia. A total of 2891 cases of phenotypic positive and 1820 cases of phenotypic negative samples were analyzed for a-thalassemia gene. Results A total of 5265 cases were detected in 22 892 screening samples, the positive rate was 23%. In the phenotype-positive group there were 2891 cases who did alpha gene analysis and 1379 cases of three deletion alpha-thalassemia genes were detected. In the phenotype negative group, there were 1820 cases of α gene analysis, 49 cases of 3 deletion type α-thalassemia genes were detected, and the deletion rate of α-thalassemia gene carrier rate was 13.05%. The common allelic frequencies of the three deletional α-thalassemia genes were (--SEA) 4.24%, (-α3.7) 1.72% and (-α4.2) 0.87%. The incidence of clinical common α-thalassemia was 4.26% in stationary α-thalassemia, 8.57% in standard α-thalassemia and 0.22% in HbH disease. Conclusions This area is a high prevalence area of thalassemia. Genetic analysis should be included in the screening project to provide a scientific basis for formulating the intervention program for thalassemia.