南充地区儿童地中海贫血基因检测结果分析

Analysis of thalassemia gene detection results in children in Nanchong area

目的探讨南充地区儿童地中海贫血基因阳性率及基因类型分布特征,为该地区儿童地贫的诊断提供参考.方法选自2017年1月-2023年12月在南充市中心医院进行α、β-地贫基因检测的1258例儿童为研究对象.采用反向斑点杂交技术和多聚酶链扩增技术(GAP-PCR)进行α、β-地中海贫血基因检测,并对检测结果进行统计学分析.结果1258例样本中共检出501例阳性患者,地贫基因携带率达39.83%.其中β-地贫267例(53.29%),α-地贫213例(42.51%),αβ复合型地贫21例(4.19%).α-地贫以--^(SEA)/αα(62.91%)和-α^(3.7)/αα(18.78%)基因型为主;β-地贫以CD17(41.57%)、CD41-42(28.46%)和IVS-II-654(19.48%)基因型为主.αβ复合型地贫以-α^(3.7)/αα复合CD41-42(23.81%)、αα^(WS)/αα复合CD41-42(14.29%)、--^(SEA)/αα复合CD17(14.29%)和--^(SEA)/αα复合CD41-42(14.29%)基因型为主.结论南充地区儿童地中海贫血基因携带率较高且类型复杂多样,分布有区域性特点.

Objective To investigate the positive rate of thalassemia gene and the distribution characteristics of gene types in children in Nanchong area,and to provide reference for the diagnosis of thalassemia in children in this area.Methods 1258 children withα-andβ-thalassemia gene were selected from Nanchong Central Hospital from January 2017 to December 2023.Theαandβ-thalassemia genes were detected by reverse dot hybridization and polymerase chain amplification(GAP-PCR),and the results were analyzed statistically.Results A total of 501 positive patients were detected in 1258 samples,and the carrying rate of thalidomia gene was 39.83%.There were 267 cases ofβ-thalassemia(53.29%),213 cases ofα-thalassemia(42.51%)and 21 cases ofα-βcomplex thalassemia(4.19%),α-thalassemia was dominated by--^(SEA)/αα(62.91%)and-α^(3.7)/αα(18.78%)genotypes.The main genotypes ofβ-thalidomia were CD17(41.57%),CD41-42(28.46%)and IVS-II-654(19.48%).αβcomplex thalassemia is dominated by-α^(3.7)/ααcomplex CD41-42(23.81%),αα^(ws)/αα complex CD41-42(14.29%),--^(SEA)/ααcomplex CD17(14.29%)and--^(SEA)/αα complex CD41-42(14.29%)genotypes.Conclusion Thalassemia gene carrying rate of children in Nanchong area is high,the types are complex and diverse,and the distribution has regional characteristics.