摘要
目的:分析广西梧州地区地中海贫血患者基因突变类型及分布特征,探讨血红蛋白(Hb)A_(2)指标在地中海贫血筛查中的诊断价值。方法:对在广西梧州市红十字会医院就诊的1114例地中海贫血患者,应用Bio-Rad VARIANTⅡHb分析系统检测HbA_(2)含量,采用缺口聚合酶链反应法(Gap-PCR)和反向点杂交(RDB)技术进行地中海贫血基因分析,通过受试者工作特征曲线(ROC曲线)分析HbA_(2)在不同类型地中海贫血筛查中的诊断价值。结果:在1114例地中海贫血患者中,检出α地中海贫血691例(62.03%)、β地中海贫血354例(31.78%)、α地中海贫血合并β地中海贫血69例(6.19%)。本次共检出67种地中海贫血基因型,其中α地中海贫血检出20种基因型,以--^(SEA)/αα(358例)、-α^(3.7)/αα(97例)、-α^(4.2)/αα(57例)、--^(SEA)/-α^(3.7)(48例)4种基因型多见,构成比分别为51.81%、14.04%、8.25%、6.94%;β地中海贫血检出16种基因型,其中CD41-42M/N(163例)、CD17M/N(51例)、-28M/N(48例)、IVS-II-654M/N(45例)4种基因型多见,构成比分别为46.04%、14.41%、13.55%、12.71%。α地中海贫血复合β地中海贫血检出31种基因型。ROC曲线分析结果显示,HbA_(2)指标诊断α地中海贫血最佳截断值为2.65%,其敏感度为0.595,特异性为0.844;诊断β地中海贫血最佳截断值为3.80%,其敏感度为0.997,特异性为1;诊断aβ复合型地中海贫血最佳截断值为3.55%,其敏感度为0.941,特异性为1。结论:广西梧州地区α地中海贫血以--^(SEA)/αα基因型为主;β地中海贫血以CD41-42M/N为主要突变类型。αβ复合型地中海贫血频率较高且基因型多样化。
Objective:To analyze the gene mutation types and distribution characteristics in patients with thalassemia in Wuzhou,Guangxi,and to explore the diagnostic value of hemoglobin(Hb)A_(2) in thalassemia screening.Methods:The content of HbA_(2) in 1114 patients with thalassemia in Wuzhou Red Cross Hospital was detected by Bio-Rad VARIANTⅡHb analysis system.The gene of thalassemia was analyzed by gap polymerase chain reaction(Gap-PCR)and reverse dot blot hybridization(RDB).The diagnostic value of HbA_(2) in different types of thalassemia was analyzed by the receiver operating characteristic(ROC)curve.Results:Among the 1114 patients with thalassemia,691 cases(62.03%)wereα-thalassemia,354 cases(31.78%)wereβ-thalassemia,and 69 cases(6.19%)wereα-thalassemia complicated withβ-Thalassemia.A total of 67 thalassemia genotypes were detected,of which 20 genotypes ofα-thalassemia were detected.The most common genotypes were--^(SEA)/αα(n=358),-α^(3.7)/αα(n=97),-α^(4.2)/αα(n=57)and--^(SEA)/-α^(3.7)(n=48).The constituent ratios were 51.81%,14.04%,8.25%and 6.94%,respectively.Sixteen genotypes ofβ-Thalassemia were detected,including CD41-42M/N(n=163),CD17M/N(n=51),-28M/N(n=48)and IVS-II-654M/N(n=45),with constituent ratios of 46.04%,14.41%,13.55%and 12.71%,respectively.There were 31 genotypes ofα-thalassemia combined withβ-thalassemia.The results of ROC curve analysis showed that the best cut-off value of HbA_(2) index for the diagnosis ofα-thalassemia was 2.65%,the sensitivity was 0.595 and the specificity was 0.844;the best cut-off value for the diagnosis ofβ-thalassemia was 3.80%,the sensitivity was 0.997 and the specificity was 1;the best cut-off value for the diagnosis of aβ thalassemia was 3.55%,the sensitivity was 0.941 and the specificity was 1.Conclusion:The main genotype ofα-thalassemia in Wuzhou,Guangxi is--^(SEA)/ααgenotype,and the main mutation type ofβ-thalassemia is CD41-42M/N.The frequency ofαβcompound thalassemia is high and the genotypes are diversified.
作者
蒙秀坚
陈秀勤
覃炜玲
麦莹莹
黎凤元
潘美秀
Meng Xiujian;Chen Xiuqin;Qin Weiling;Mai Yingying;Li Fengyuan;Pan Meixiu(Laboratory Department,Wuzhou Red Cross Hospital,Wuzhou 543002,China)
出处
《广西医科大学学报》
CAS
2022年第6期970-974,共5页
Journal of Guangxi Medical University
基金
广西壮族自治区卫生健康委员会自筹经费科研基金项目(No.Z20190727)。
