广西梧州地区地中海贫血儿童地贫基因型构成分析

目的了解梧州地区地中海贫血高风险儿童地中海贫血的检出率及基因型构成情况,为制定防治策略、降低发病率提供参考。方法应用跨跃断裂点PCR和PCR结合反向斑点杂交技术对2010—2018年的梧州地区地中海贫血高风险患儿进行α地中海贫血4种缺失型、3种点突变以及β地中海贫血的17种点突变进行检测和构成分析。结果地中海贫血初筛阳性为1421例,经基因确诊为地中海贫血共871例,阳性率为61.29%。涉及4种缺失型,14种突变类型。α地中海贫血452例(51.89%);β地中海贫血337例(38.69%),α复合β地中海贫血82例(9.41%)。梧州地区儿童α地中海贫血常见基因型为:-SEA/αα,-SEA/-α3.7,-α3.7/αα,-SEA/αCSαCS,αWSα/αα,-SEA/-α4.2,-α4.2/αα,αCSα/αα。梧州地区儿童β地中海贫血杂合子以CD41-42、CD17、-28、CD71-72等4种基因型最为常见,双重杂合子以CD41-42/-28、CD41-42/IVS-2-654、CD41-42/CD71-72等3种基因型最为常见。纯合子以CD41-42/CD41-42、-28/-28,2种基因型最为常见。结论控制地中海贫血预防是关键,加强政府投入,大规模筛查突变基因携带者,阻止重型地贫患儿出生。

Genotype analysis of thalassemia in children with thalassemia in Wuzhou

Objective To investigate the prevalence and genotype of thalassemia in high-risk children with thalassemia in Wuzhou,and to provide a reference for formulating strategies for the prevention and treatment of thalassemia and for reducing the incidence of thalassemia.Methods Four deletions and 3 point mutations of alpha-thalassemia and 17 point mutations of beta-thalassemia were detected and analyzed by GAP-PCR and PCR combined with reverse dot blot hybridization in children at a high risk for thalassemia in Wuzhou from 2010 to 2018.Results There were 1421 positive cases in the first screening,and 871 cases were confirmed through genotyping,with a positive rate of 61.29%,including4 deletion types and 14 mutation types.There were 452 cases(51.89%)ofα-thalassemia,337 cases(38.69%)ofβ-thalassemia and 82 cases(9.41%)of combination ofα-thalassemia andβ-thalassemia.The common genotypes ofα-thalassemia in children in Wuzhou were:-SEA/αα,-SEA/-α3.7,-α3.7/αα,-SEA/αCSαCS,αWSα/αα,-SEA/-α4.2,-α4.2/αα,andαCSα/αα.CD41-42,CD17,-28 and CD71-72 were the most common heterozygotes,while CD41-42/-28,CD41-42/IVS-2-654,and CD41-42/CD71-72 were the most common double heterozygotes in children withβ-thalassemia in Wuzhou.The most common homozygous genotypes were CD41-42/CD41-42 and-28/-28.Conclusion In order to control thalassemia it is critical to increase investment in large-scale screening of carriers of the thalassemia mutant gene,and to prevent the birth of children with severe thalassemia.