广西柳州地区地中海贫血筛查及基因分型结果研究  

Analysis of screening and genotypes of thalassemia in Liuzhou Area of Guangxi Province

作　　者：黄志卓 高云 巢薇 黄冠大 HUANG Zhizhuo;GAO Yun;CHAO Wei;HUN AG Guanda(Department of Medical Laboratory,Liuzhou Worker's Hospital,Liuzhou,545007,China)

机构地区：[1]柳州市工人医院医学检验科,广西柳州545007

出　　处：《临床血液学杂志》2022年第6期414-418,共5页Journal of Clinical Hematology

摘　　要：目的:了解广西柳州地区地中海贫血(地贫)的筛查情况及基因类型的分布,为遗传咨询及防治措施提供科学依据。方法:以2016年1月至2020年12月就诊并进行筛查和基因检测的10269例样本作为分析对象,通过血红蛋白电泳、血液学指标进行筛查,采用PCR结合反向斑点杂交和琼脂糖凝胶电泳方法及DNA测序技术进行地贫的基因类型及其构成比的分析。结果:β地贫筛查灵敏度明显高于α地贫的筛查灵敏度,差异有统计学意义(P<0.05)。在α地贫基因携带者中,进行Hb电泳联合平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)筛查可明显提高筛查阳性率(P<0.05)。10269例就诊者中共检出4483例地贫基因携带者,阳性检出率43.66%,α地贫基因、β地贫基因和α复合β地贫基因的携带率分别为26.97%、14.49%和2.20%。26种α地贫基因类型中,以--^(SEA)/αα、-α^(3.7)/αα、α^(CS)α/αα和-α^(4.2)/αα为常见,其携带率分别为12.90%、4.10%、2.50%和1.71%,检出3例罕见α地贫;静止型α地贫、轻型α地贫和HbH所占比例分别为35.64%、50.96%和13.40%。32种β地贫基因类型,以β^(41-42)/β^(N)和β^(-17)/β^(N)为主,携带率分别为6.82%和4.52%,检出2种罕见型基因IVSⅡ-5和CD37。α复合β地贫基因型以β^(41-42)/β^(N)复合--^(SEA)/αα和β^(41-42)/β^(N)复合-α^(3.7)/αα为主。结论:Hb电泳联合MCV、MCH筛查可明显提高筛查阳性率。本地区地贫检出率较高,基因类型具有多样性,α地贫以--^(SEA)/αα为主,β地贫以β^(41-42)/β^(N)为常见。本研究结果为制订地贫的筛查方案和开展优生工作提供参考数据。Objective:To investigate the screening and genotype in Yulin area to provide scientific basis for genetic consultation and prevention measures.Methods:A total of 10269 cases who underwent the thalassemia screening and gene detection in our hospital from Junuary 2016 to December 2020 wwere selected.The hemoglobin electrophoresis and hematology detection index were used to screening the thalassemia,and the polymerase reaction(PCR)combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detect the types and constituent ratios of gene defects in thalassemia gene.Results:The sensitivity of screeningβ-thalassemia was significantly higher thanα-thalassemia,and combined application of hemoglobin electrophoresis and MCV and MCH could obviously improve the screening positive rate inα-thalassemia.A total of 4483 cases were identified as thalassemia gene detection or mutation in 10269 cases with a detecting rate of 43.66%,and the detecting rate ofα-thalassemia,β-thalassemia andα-combiningβ-thalassemia were 26.97%,14.49%and 2.20%respectively.26 kinds ofα-thalassemia gene mutations were detected,the common mutations were as follows:--^(SEA)/αα(12.90%),-α^(3.7)/αα(4.10%),α^(CS)α/αα(2.50%)and-α^(4.2)/αα(1.71%),and including three rare gene mutations,the constituent ratio of Silentα-thalassemia,Minorα-thalassemia and HbH disease were 35.64%,50.96%and 13.40%respectively.32 kinds ofβ-thalassemia gene mutations were detected,the common mutations were as follows:β^(41-42)/β^(N)(6.82%)andβ-17/β^(N)(4.52%),and including two rare gene mutations:IVSⅡ-5 and CD37.The main genotype ofα-combiningβ-thalassemia wereβ^(41-42)/β^(N) combining--^(SEA)/ααandβ^(41-42)/β^(N)combining-α^(3.7)/αα.Conclusion:Combined application of hemoglobin electrophoresis and MCV and MCH can obviously improve the screening positive rate of thalassemia.The detection rate of thalassemia gene was high in Liuzhou population,and there was diversity in mutation spectrums of thalassemia.The most common geno

关 键 词：地中海贫血 筛查 基因型 基因携带率 

分 类 号：R556[医药卫生—血液循环系统疾病]