血常规联合血红蛋白电泳在临床地中海贫血基因诊断中的应用价值  

The application value of blood routine combined with hemoglobin electrophoresis in clinical gene diagnosis of thalassemia

作　　者：谢快快 陈祖阵 XIE Kuai-kuai;CHEN Zu-zhen(Qingliu County Traditional Chinese Medicine Hospital,Sanming 365300,China)

机构地区：[1]福建省三明市清流县中医院,365300 [2]三明市中西医结合医院,365001

出　　处：《中国现代药物应用》2024年第20期80-83,共4页Chinese Journal of Modern Drug Application

摘　　要：目的探讨血常规联合血红蛋白(Hb)电泳检测在临床地中海贫血基因诊断中的应用价值。方法将67例确诊为地中海贫血的患者纳入观察组,将同期67例排除地中海贫血的健康者纳入对照组。所有研究对象均进行血常规、(Hb)电泳检测。比较两组血常规检验红细胞参数[红细胞计数(RBC)、Hb、红细胞压积(HCT)、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)]、血红蛋白A(HbA)、血红蛋白A2(HbA2)水平;比较对照组及不同基因类型地中海贫血患者红细胞参数水平;以基因检测(基因突变检测结果)为筛查金标准,分析不同检测方式在地中海贫血基因诊断中的效能。结果观察组RBC(5.22±0.79)×1012/L、Hb(116.88±18.32)g/L、HCT(36.67±5.54)%、MCV(71.07±8.05)fl、MCH(22.56±2.99)pg、MCHC(317.01±13.51)g/L、HbA(93.02±0.92)%、HbA2(2.15±0.36)%均低于对照组的(5.88±0.39)×1012/L、(136.21±9.30)g/L、(40.18±2.54)%、(80.25±3.17)fl、(30.14±1.71)pg、(336.92±13.22)g/L、(96.75±0.25)%、(3.05±0.26)%,差异具有统计学意义(P<0.05)。经检测,α型地中海贫血、β型地中海贫血患者的RBC、Hb、HCT、MCV、MCH、MCHC、HbA、HbA2水平均低于对照组,α复合β型地中海贫血患者RBC、Hb、MCH、HbA、HbA2水平低于对照组,差异具有统计学意义(P<0.05)。应用MCV+MCH+HbA+HbA2联合检测的灵敏度(98.51%)、特异度(97.01%)、阳性预测值(97.06%)、阴性预测值(98.48%)、准确度(97.76%)高于MCV检测[灵敏度(83.58%)、特异度(94.03%)、阳性预测值(93.33%)、阴性预测值(85.14%)、准确度(88.81%)]、MCH检测[灵敏度(89.55%)、特异度(92.54%)、阳性预测值(92.31%)、阴性预测值(89.86%)、准确度(91.04%)]、HbA+HbA2联合检测[灵敏度(88.06%)、特异度(88.06%)、阳性预测值(88.06%)、阴性预测值(88.06%)、准确度(88.06%)],但差异无统计学意义(P>0.05)。结论血常规红细胞参数指标、Hb电泳检测在健康人群�Objective To explore the application value of blood routine combined with hemoglobin(Hb)electrophoresis in clinical gene diagnosis of thalassemia.Methods A total of 67 patients diagnosed with thalassemia were selected as the study group.67 healthy individuals who were excluded from thalassemia during the same period were selected as the control group.All the study subjects were subjected to blood routine and Hb electrophoresis tests.Comparison of the levels of red blood cell parameters[red blood cell count(RBC),Hb,hematocrit(HCT),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)],hemoglobin A(HbA),and hemoglobin A2(HbA2)in the routine blood tests between the two groups;comparison of levels of red blood cell parameters in control and thalassemia patients with different genotypes;analysis of the efficacy of different testing modalities in the genetic diagnosis of thalassemia,using genetic testing(results of gene mutation testing)as the gold standard for screening.Results The observation group had RBC of(5.22±0.79)×1012/L,Hb of(116.88±18.32)g/L,HCT of(36.67±5.54)%,MCV of(71.07±8.05)fl,MCH of(22.56±2.99)pg,MCHC of(317.01±13.51)g/L,HbA of(93.02±0.92)%and HbA2 of(2.15±0.36)%,which were lower than(5.88±0.39)×1012/L,(136.21±9.30)g/L,(40.18±2.54)%,(80.25±3.17)fl,(30.14±1.71)pg,(336.92±13.22)g/L,(96.75±0.25)%and(3.05±0.26)%in the control group,and the differences were statistically significant(P<0.05).The levels of RBC,Hb,HCT,MCV,MCH,MCHC,HbA and HbA2 in patients withα-thalassemia andβ-thalassemia were lower than those in the control group,and the levels of RBC,Hb,and MCH in patients with complexαβ-thalassemia were lower than those in the control group.The difference was statistically significant(P<0.05).The sensitivity(98.51%),specificity(97.01%),positive predictive value(97.06%),negative predictive value(98.48%),and accuracy(97.76%)of the MCV+MCH+HbA+HbA2 combined test were higher than MCV test[sensitivity(83.58%),specificity(94.03%),positi

关 键 词：血常规 血红蛋白电泳 地中海贫血 基因诊断 红细胞参数 血红蛋白A2 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R446.11[医药卫生—内科学]