红细胞贫血指标和血红蛋白电泳联合地中海贫血基因检测在α-地中海贫血诊断中的临床价值  

Clinical value of erythrocytic anemia indicators+hemoglobin electrophoresis+genetic test for thalassemia in the diagnosis ofα-thalassemia

作　　者：卢新兆[1] 黄晓华[1] 郑小凤 李新才[1] 黄浩南[1] LU Xinzhao;HUANG Xiaohua;ZHENG Xiaofeng;LI Xincai;HUANG Haonan(Department of Clinical Laboratory,Longyan First Hospital Affiliated to Fujian Medical University,Fujian,Longyan 364000,China)

机构地区：[1]福建医科大学附属龙岩市第一医院检验科,福建龙岩364000

出　　处：《中国医药科学》2023年第7期163-166,共4页China Medicine And Pharmacy

摘　　要：目的探讨红细胞贫血指标和血红蛋白电泳联合地中海贫血基因检测在α-地中海贫血诊断中的临床价值。方法回顾性分析2018年1月至2021年6月在福建医科大学附属龙岩市第一医院门诊及住院诊断为α-地中海贫血患者51例,利用全自动血液分析流水线进行红细胞贫血指标检测,全自动毛细管电泳仪进行血红蛋白电泳分析,同时运用跨越断裂点PCR技术和DNA反向点杂交芯片技术进行基因分型检测及各指标ROC曲线分析。结果51例诊断α-地中海贫血患者中有46例有贫血症状,贫血发生率为90.20%,15例男性14例有贫血,贫血发生率为93.33%,36例女性32例有贫血,贫血发生率为88.89%。α-地中海贫血组血红蛋白(Hb)A2,血红蛋白(Hb),红细胞平均体积(MCV),红细胞平均血红蛋白量(MCH)及红细胞平均血红蛋白浓度(MCHC)均低于对照组,差异有统计学意义(P<0.05)。51例地中海贫血血红蛋白电泳结果,有50例Hb A2<2.2,α-地中海贫血表型阳性,阳性率98.04%,大部分α-地中海贫血患者同时检出Hb H、Hb Bart’s、Hb CS的一种或多种区带。33例α-地中海贫血患者进行地中海贫血基因检测,31例检出三种基因缺失型和三种基因突变型中的一种或混合型,以α-SEA型为主,2例未检出常见基因型。从α-地中海贫血组绘制的ROC曲线可以判断,Hb A2的AUC为0.990,Hb的AUC为0.987,MCV的AUC为0.994,MCH的AUC为0.970,MCHC的AUC为0.960,各指标显著提高地中海贫血的诊断价值。结论红细胞贫血指数和全自动毛细管电泳仪检测血红蛋白,可以提高地中海贫血的筛查阳性率,减少地中海贫血的漏诊,联合地中海贫血基因检测以及蛋白测序技术,有效地减少轻型地中海贫血的误诊和漏诊率,并大大提高地中海贫血的确诊和检出率。Objective To explore the clinical value of erythrocytic anemia indicators+hemoglobin electrophoresis+genetic test for thalassemia in the diagnosis ofα-thalassemia.Methods A total of 51 patients diagnosed withα-thalassemia in outpatient and inpatient settings at Longyan First Hospital Affiliated to Fujian Medical University from January 2018 to June 2021 were retrospectively analyzed.They were subjected to erythrocytic anemia indicators test by a fully automated blood analysis pipeline,hemoglobin electrophoresis analysis by a fully automated capillary electrophoresis instrument,genotyping test by breakpoint spanning polymerase chain reaction(PCR)technology and reverse dot-blot DNA chip technology,and receiver operating characteristic(ROC)curve analysis of each indicator.Results 46 of 51α-thalassemia patients had anemia symptoms(with the incidence of 90.20%),including 14 of 15 males(with the incidence of 93.33%),and 32 of 36 females(with the incidence of 88.89%).The values of hemoglobin(Hb)A2,Hb,mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),and mean corpuscular hemoglobin concentration(MCHC)inα-thalassemia patients were lower than those in normal controls,with statistically significant differences(P<0.05).50 of 51 thalassemia patients had HbA2 less than 2.2 according to the hemoglobin electrophoresis analysis results,the positivity rate ofα-thalassemia phenotype was 98.04%,and most of theα-thalassemia patients had one or more bands of HbH,HbBart’s,HbCS detected at the same time.31 of 33α-thalassemia patients had one or a combination of three genetic deletion types and three genetic mutation types through genetic test for thalassemia,mainlyα-SEA type,and the other 2 patients had no common genetic type detected.According to the ROC curve for theα-thalassemia patients,the area under curve(AUC)was 0.990 for HbA2,0.987 for Hb,0.994 for MCV,0.970 for MCH,and 0.960 for MCHC,suggesting a great improvement in the value of each indicator in diagnosing thalassemia.Conclusion Erythrocytic anemia indi

关 键 词：红细胞贫血 地中海贫血 血红蛋白电泳 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]