92550例普宁地区地中海贫血筛查结果分析

Analysis of screening results of 92550 cases of thalassemia in Puning area

目的掌握普宁地区人群地中海贫血基因的携带率及其基因类型分布情况。方法选择2015年1月至2021年6月在普宁市妇幼保健计划生育服务中心进行地中海贫血基因检查的92550例婚检和孕检人群作为研究对象,所有样本均采用跨越断裂点聚合酶链反应(Gap-PCR)和聚合酶链反应结合反向点杂交(PCR-RDB)检测,统计地中海贫血筛查阳性情况,并分析地贫基因突变类型。结果92550例人群中,地中海贫血基因携带者7362例,阳性率为7.95%,其中男性阳性率为56.47%,明显高于女性的43.53%,差异有统计学意义(P<0.05);α-地中海贫血阳性率为5.62%,明显高于β-地中海贫血的2.11%与α和β复合型-地中海贫血的0.23%,差异有统计学意义(P<0.05);α-地中海贫血中,--SEA/αα阳性率最高,占76.51%,其次为-α^(3.7)/αα和-α^(4.2)/αα,分别占12.53%和3.83%;β-地中海贫血中,β41-42/βN检出率最高,占35.76%,其次为β^(654)/βN和β-^(28)/βN,占33.81%和12.98%;α和β复合型地中海贫血中,--SEA/αα合并β^(654)/βN最为常见。结论普宁地区有较高的地中海贫血基因携带率,其基因突变类型多样化。在普宁地区广泛开展地中海贫血的筛查、遗传咨询、优生优育及产前诊断具有重要的临床意义。

Objective To understand the gene carrier rate of thalassemia and genotype distribution in Puning area.Methods A total of 92550 individuals of premarital examination and pregnancy examination who underwent thalassemia gene examination in Puning Maternal and Child Health and Family Planning Service Center from January 2015 to June 2021 were selected as the research objects.All samples were detected by cross-break polymerase chain reaction(Gap-PCR)and polymerase chain reaction combined with reverse dot hybridization(PCR-RDB).The positive cases of thalassemia screening were counted and the type of thalassemia gene mutation was analyzed.Results Among 92550 patients,there were 7362 carriers of thalassemia genes,with a positive rate of 7.95%;the positive rate of males was 56.47%,which was significantly higher than 43.53%of females's(P<0.05).The positive rate ofα-thalassemia was 5.62%,which were significantly higher than 2.11%ofβ-thalassemia's and 0.23%ofα,β-thalassemia(P<0.05).Inα-thalassaemia,--SEA/ααpositive rate was highest,accounting for 76.51%,followed byα^(3.7)/ααand alpha ^(4.2)/αα,accounting for 12.53%and 3.83%,respectively.The detection rate ofβ^(41-42)/βN was the highest inβ-thalassemia,accounting for 35.76%,followed byβ^(654)/βN andβ-^(28)/βN,accounting for 33.81%and 12.98%.--^(SEA)/ααcombined withβ654/βN was the most common inα,β-thalassemia.Conclusion The gene carrier rate of thalassemia in Puning region was relatively high,and the mutation types were diversely distributed in this region.It is of great clinical significance to carry out extensive screening,genetic counseling,eugenics,and prenatal diagnosis of thalassemia in Puning area.