贵阳地区健康体检人群珠蛋白生成障碍性贫血的筛查及基因型分析

Screening and genetic diagnosis of thalassemia in health check-up population in Guiyang

目的了解贵阳地区健康体检人群中珠蛋白生成障碍性贫血的携带率及基因突变型。方法选择在该院进行常规健康体检的人员共3 561例为研究对象,经血常规检查方法获得对珠蛋白生成障碍性贫血疑似病例后,采用Gap-PCR及反向斑点杂交(RDB)进行α-、β-珠蛋白生成障碍性贫血基因分析。结果血常规检查获得196例珠蛋白生成障碍性贫血疑似病例,进一步的基因分析共检出珠蛋白生成障碍性贫血131例,珠蛋白生成障碍性贫血携带率为3.68%(131/3 561);其中α-珠蛋白生成障碍性贫血65例,携带率为1.83%(65/3 561),以--^(SEA)/αα为主;β-珠蛋白生成障碍性贫血60例,携带率为1.68%(60/3 561),以β^(CD41-42)及β^(CD17)为主;αβ复合型珠蛋白生成障碍性贫血6例,携带率为0.17%(6/3 561)。结论贵阳地区健康体检人群珠蛋白生成障碍性贫血携带率为3.68%,基因突变类型与以往报道一致。以常规健康体检人群为调查对象,能较为真实地反映贵阳地区珠蛋白生成障碍性贫血人群携带率,将有助于该地的婚育指导及珠蛋白生成障碍性贫血防控策略的制定。

Objective To investigate carrier rate and gene mutation of thalassemia in health check-up population in Guiyang.Methods A total of 3 561 persons with a routine health check-up were selected for blood tests to obtain suspected cases of thalassemia,then Gap-PCR and RDB(reverse dot blot hybridization)were performed to analyzeα-&β-thalassemia mutations.Results 196 suspected cases of thalassemia were obtained and further genetic analysis results showed that 131 cases were thalassemia and the carrier rate was 3.68%(131 out of 3 561).Among those diagnosed thalassemia,65 cases wereα-thalassemia with a frequency of 1.83%(65 out of 3 561)and the most common found was--SEA/αα,60 cases wereβ-thalassemia with a frequency of 1.68%(60 out of 3 561)and the major mutations wereβCD41-42 andβCD17,6 cases wereαandβcompound thalassemia with a frequency of 0.17%(6 out of 3 561).Conclusion The carrier rate of thalassemia is 3.68%in health check-up population from Guiyang.The prevalence ofα-thalassemia is higher thanβ-thalassemia,and the types of gene mutation are consistent with previous reports.In addition,routine health check-up population were studied in this paper,it will not only truly reflect the carrier rate of thalassemia but also benefit for marriage and childbirth guidance and the design of a screening strategy for the control of thalassemia.