10854例珠蛋白生成障碍性贫血基因筛查结果及基因类型分析

Analysis on result of genetic screen and gene types of 10 854 cases with thalassemia

目的了解重庆地区进行孕前检查人群的珠蛋白生成障碍性贫血基因携带率、基因类型和构成比情况。方法对2014年4月至2016年3月在该院进行孕前体检的10 854人进行珠蛋白生成障碍性贫血筛查,筛查包括:平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)水平,血红蛋白电泳,对筛查结果任意一项异常者行珠蛋白生成障碍性贫血基因检测。结果在10 854人中,珠蛋白生成障碍性贫血初筛阳性者1 117人,筛查阳性率10.29%。珠蛋白生成障碍性贫血基因阳性者共458例,珠蛋白生成障碍性贫血基因携带率4.21%。其中检测出单纯α珠蛋白生成障碍性贫血253例,α珠蛋白生成障碍性贫血基因携带率2.33%,其中α珠蛋白生成障碍性贫血以--SEA最常见,构成比为52.17%。检测出单纯β珠蛋白生成障碍性贫血197例,β珠蛋白生成障碍性贫血基因携带率1.81%,其中β珠蛋白生成障碍性贫血以CD17(A→T)最常见,构成比为31.47%。检测出携带αβ复合型珠蛋白生成障碍性贫血基因11例。结论重庆是珠蛋白生成障碍性贫血高发地区,做好孕前珠蛋白生成障碍性贫血筛查工作,对提高人口素质,实现优生优育具有重要作用。

Objective To investigate the gene carrying rate,gene type and composition ratio of thalassemia among pre-pregnant population in Chongqing area. Methods A total of 1 054 people were enrolled in the hospital from April 2014 to March 2016 for thalassemia screening. The content of screening included mean corpuscular volume （MCV）, mean corpuscular hemoglobin （MCH） and hemoglobin electrophoresis. Thalassemia gene was examined in people with any abnormal term of screening result. Results In 10 854 cases,1 117 cases showed positive in thalassemia primary screening,and the positive rate was 10.29%. 458 cases were tested positive of thalassemia gene,the carrying rate of thalassemia was 4.21%. In which,253 cases of pure α-thalassemia were tested. The carrying rate of α-thalassemia was 2.330%. The most common kind in α-thalassemia was ^_SEA whose constituent ratio were 52.17 %. 197 cases of pure β-thalassemia were tested,the carrying rate of %-thalassemia was 1.81%. The most common kind in β-thalassemia was CD17 （A→T） ,whose constituent ratio were 31.47 %. 11 cases were diagnosed with αβ-thalassemia. Conclusion Chongqing is high-prevalence area of thalassemia. It is important to conduct thalassemia genetic screen before pregnancy which plays a vital role in improving population quality and achieving prepotency. β-thalassemia;genetic screening