长沙地区21618例地中海贫血基因检测分析

Analysis of 21618 cases thalassemia gene detection results in Changsha area

目的回顾性分析长沙市妇幼保健院地中海贫血基因检测阳性率、变异类型及分布特征。方法对2013年10月至2021年6月就诊的21618例样本进行地贫基因检测,其中2013年10月至2018年12月样本采用Gap-PCR法和PCR-反向斑点杂交法检测,对2018年1月至2021年6月样本采用PCR+导流杂交法进行检测,罕见地中海贫血基因变异采用电泳和测序进行检测。结果在21618例样本中,共检出8631例地贫携带者,总检出率为39.9%。其中α地贫、β地贫、α合并β地贫分别检出4239、4182、210例,最常见的类型为:--^(SEA)/αα、-α^(3.7)/αα、-α^(4.2)/αα;β^(IVS-II-654)/β^(N)、β^(CD41-42)/β^(N)、β^(CD17)/β^(N);β^(CD41-42)/β^(N)合并-α^(3.7)/αα(14.8%)、β^(IVS-II-654)/β^(N)合并-α^(3.7)/αα(11.4%)、β^(IVS-II-654)/β^(N)合并--^(SEA)/αα(9.5%)、β^(CD41-42)/β^(N)合并--^(SEA)/αα(9.5%)。此外发现7个罕见α地贫基因变异,15个罕见β地贫基因变异和4个新变异,新变异分别为HBA1:c.*51-53(-CCT)、HBB:c.92+4_92+15delggtatcaaggtt、HBA1:c.96-58C>T、HBA2:c.305T>G。结论长沙地区是地贫高发地区,本回顾性研究为长沙地区地贫遗传咨询提供参考。

Objective To retrospectively analyze the positive rate,variants types and distribution characteristics of thalassemia gene detection in Changsha Maternal and Child Health Hospital.Methods Thalassaemia gene detection was performed on 21,618 samples from October 2013 to June 2021,of which Gap-PCR and PCR-reverse dot blot hybridization(RDB)were used for samples from October 2013 to December 2018.The samples from January 2018 to June 2021 are detected by PCR and flow-through hybridization,and rare thalassemia gene variants are detected by electrophoresis and sequencing.Results Among the 21618 samples,a total of 8,631 cases of thalassaemia were detected,with a total detection rate of 39.9%.Among them,4239 cases were α-thalassaemia in which the most common types are:--^(SEA)/αα(69.7%),-α^(3.7)/αα(18.3%),-α^(4.2)/αα(3.8%).There were 4182 cases of β-thalassemia where the most common types were β^(IVS-II-654)/β^(N)(38.2%),β^(CD41-42)/β^(N)(26.8%),β^(CD17)/β^(N)(14.3%).210 cases ofα-thalassemia combined with β-thalassemia in which the most common types areβ^(CD41-42)/β^(N) combined-α^(3.7)/αα(14.8%),β^(IVS-II-654)/β^(N) combined-α^(3.7)/αα(11.4%),β^(IVS-II-654)/β^(N) combined--^(SEA)/αα(9.5%),β^(CD41-42)/β^(N) combined--^(SEA)/αα(9.5%).It contains seven rareα-thalassemia gene variants,fifteen rare β-thalassemia gene mutations and four new variants whose names were HBA1:c.*51-53(-CCT),HBB:c.92+4_92+15delggtatcaaggtt,HBA1:c.96-58C>T,HBA2:c.305T>G.Conclusion Changsha is an area with a high incidence of thalassemia.The retrospective analysis of this study provides a reference for the genetic counseling of thalassaemia in Changsha.