2376例地中海贫血基因筛查结果分析

Gene Screening and Result Analysis of 2376 Cases of Thalassemia

目的了解于昆明医科大学第一附属医院就诊的地中海贫血(简称"地贫")基因筛查者地贫基因阳性率和基因突变类型及分布特征。方法回顾性分析2017年4月1日至2018年12月31日于昆明医科大学第一附属医院就诊的地贫基因筛查者2 376例,对地贫基因进行统计分析。结果 (1)2 376例地贫基因筛查中检出地贫基因阳性样本817例,阳性率为34.39%;其中检出α地贫基因阳性样本392例,占总阳性样本的47.98%;β地贫基因阳性样本398例,占总阳性样本的48.71%;αβ复合型地贫基因阳性27例,占总阳性样本的3.30%;(2)392例α地贫基因阳性样本中以αα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2和-α3.7/--SEA基因型为主,分别占α地贫的50.51%、32.91%、4.34%、3.57%和2.55%;398例β地贫基因阳性样本中以CD26、CD41-42、CD17、IVS II-654、nt28基因型为主,分别占β地贫的25.38%、23.37%、20.60%、20.60%和3.27%。结论云南地区地贫基因携带率仍较高,其中β地贫中CD26最多,与国内其它省市人群存在差异。

Objective To investigate the positive rate,gene mutation type and distribution characteristics of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University.Methods A retrospective analysis was made on 2376 cases of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University from April 1,2017 to December 31,2018.The parameters of thalassemia gene and blood cell analysis(Hb,MCV,MCH,RDW)were statistically analyzed.Results(1)Among 2376 cases of thalassemia gene screening,817 were positive for thalassemia gene,the positive rate was 34.39%,of which 392 cases were positive forαthalassemia gene,accounting for 47.98%of the total positive samples;398 were positive samples ofβthalassemia gene,accounting for 48.71%of the total positive samples;27 cases wereαβcompound thalassemia gene positive samples,accounting for 3.30%of the total positive samples.(2)392 positive samples ofαthalassemia gene wereαα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2 and-α3.7/--SEA genotypes,accounting for 50.51%,32.91%,4.34%,3.57%and 2.55%,respectively;CD26,CD41-42,CD17,IVS II654,nt28 genotypes were the main positive samples ofβthalassemia gene,accounting for 25.38%,23.37%,20.60%,20.60%and 3.27%of thalassemia gene.Conclusion The incidence rate of thalassemia in Yunnan is still high,of which CD26 is the largest in beta thalassemia,which is totally different from that in other provinces and cities in China.