HbA、HbA2及HbF与地中海贫血基因检测联合诊断地中海贫血的临床意义  

Clinical significance of HbA,HbA2 and HbF combined with thalassemia gene test in diagnosis of thalassemia

作　　者：何月敬 胡勉裕 叶敏南 程敏 李清香 周家怡 张川州 黎四平 HE Yue-jing;HU Mian-yu;YE Min-nan(Department of Clinical Laboratory,Dongguan Eighth People's Hospital,Dongguan 523325,China)

机构地区：[1]东莞市第八人民医院临床检验科,523325

出　　处：《中国实用医药》2024年第20期93-96,共4页China Practical Medicine

摘　　要：目的本研究将血红蛋白A(HbA)、血红蛋白A_(2)(HbA_(2))及血红蛋白F(HbF)与地中海贫血基因检测联合诊断应用于地中海贫血的诊断中,并对该方式的诊断效能进行分析。方法70例疑似地中海贫血患者,随机分为研究组和对照组,每组35例。同期纳入在本院接受健康体检的50例正常人作为健康组。对照组和健康组进行血红蛋白电泳检测(HbA、HbA_(2)、HbF),研究组实施血红蛋白电泳检测和地中海贫血基因检测。对比研究组和对照组患者的地中海贫血检出率,并对比α-地中海贫血患者、β-地中海贫血患者以及健康组的HbA、HbA_(2)及HbF水平,分析HbA、HbA_(2)、HbF联合地中海贫血基因检测诊断地中海贫血的受试者工作特征曲线(ROC曲线)。结果研究组的α-地中海贫血检出率为34.29%、β-地中海贫血检出率为54.29%,对照组的α-地中海贫血检出率为31.43%、β-地中海贫血检出率为37.14%,研究组地中海贫血总检出率(88.57%)高于对照组(68.57%),差异有统计学意义(P<0.05)。α-地中海贫血患者、β-地中海贫血患者、健康组的HbA水平对比,差异无统计学意义(P>0.05);α-地中海贫血患者、β-地中海贫血患者、健康组的HbF、HbA_(2)水平对比,差异有统计学意义(P<0.05)。其中β-地中海贫血患者的HbF水平(5.87±1.56)%、HbA_(2)水平(5.62±1.67)%高于α-地中海贫血患者的(1.67±0.52)%、(1.51±0.34)%以及健康组的(1.21±0.19)%、(2.81±0.92)%;α-地中海贫血患者的HbA_(2)水平低于健康组,而HbF水平高于健康组,差异有统计学意义(P<0.05)。以HbA、HbA_(2)、HbF与地中海贫血基因检测为检验变量,设置1为患病、0为未患病作为效应变量绘制ROC曲线:其中HbA、HbA_(2)、HbF诊断的曲线下面积(AUC)值为0.703,95%置信区间(CI)=(0.554,0.852),灵敏度为67.3%,特异度为73.3%;HbA、HbA_(2)、HbF联合地中海贫血基因检测诊断的AUC值为0.852,95%CI=(0.736,0.967),灵敏度为83.6%,特异度为86.7%。Objective In this study,hemoglobin A(HbA),hemoglobin A_(2)(HbA_(2))and hemoglobin F(HbF)combined with thalassemia gene test was applied in the diagnosis of thalassemia,and the diagnostic efficacy of this method was analyzed.Methods 70 patients with suspected thalassemia were randomly divided into a control group and a study group,each consisting of 35 cases.Another 50 normal subjects who received physical examination in our hospital during the same period were included as the healthy group.The control group and the healthy group were tested by hemoglobin electrophoresis(HbA,HbA_(2) and HbF),and the study group was tested by hemoglobin electrophoresis combined with thalassemia gene.The thalassemia detection rates of patients in the study group and control group were compared,and then the HbA,HbA_(2) and HbF levels in theα-thalassemia patients,β-thalassemia patients and the healthy group were compared,and the receiver operating characteristic(ROC)curve of HbA,HbA_(2) and HbF combined with the thalassemia gene test for thalassemia was analyzed.Results In the study group,the detection rate ofα-thalassemia was 34.29%,and the detection rate ofβ-thalassemia was 54.29%;in the control group,the detection rate ofα-thalassemia was 31.43%,and the detection rate ofβ-thalassemia was 37.14%.The total detection rate of thalassemia in the study group(88.57%)was higher than that in the control group(68.57%),and the difference was statistically significant(P<0.05).Comparison of HbA levels inα-thalassemia patients,β-thalassemia patients,and healthy group,the difference was not statistically significant(P>0.05).Comparison of HbF and HbA_(2) levels inα-thalassemia patients,β-thalassemia patients,and healthy group,the difference was statistically significant(P<0.05).HbF level of(5.87±1.56)%and HbA_(2) level of(5.62±1.67)%inβ-thalassemia patients were higher than those inα-thalassemia patients[(1.67±0.52)%and(1.51±0.34)%]and healthy group[(1.21±0.19)%and(2.81±0.92)%];HbA_(2) level in the patients withα-thalassemia was

关 键 词：血红蛋白A 血红蛋白A2 血红蛋白F 地中海贫血基因检测 地中海贫血 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]