血常规联合血红蛋白电泳检测 与地中海贫血基因分型的关联及诊断价值

The relationship between blood routine test combined with hemoglobin electrophoresis and thalassemia genotyping and its diagnostic value

目的分析血常规联合血红蛋白电泳检测与地中海贫血基因分型的相关性,探讨血液学常规检查、血红蛋白电泳及地中海贫血基因联合检查在地中海贫血疾病中的诊断价值。方法选取2019年7月至2020年4月我院行地中海贫血筛查确诊的648例患者为地中海贫血组,并选择非地中海贫血健康成人600名为对照组,分别开展血常规检查与血红蛋白电泳检测,初筛结果表现为阳性时再行地中海贫血基因分型检测,观察地中海贫血患者的基因分布,并评估不同筛查方式的诊断效能。结果648例地中海贫血患者中376例(58.0%)为α型,223例(34.4%)为β型,49例(7.6%)为α+β复合型。α型、β型、α+β复合型地中海贫血患者的平均血红蛋白含量(MCH)、平均红细胞体积(MCV)、血红蛋白(Hb)A2水平与对照组比较差异均具有统计学意义(P<0.05),并且α型、β型、α+β复合型地中海贫血患者的MCH、MCV与HbA2阳性率均明显高于对照组,差异具有统计学意义(P<0.05)。HbA2+MCH+MCV+基因检测的阳性检出率明显高于其他方法,并且HbA2+MCH+MCV+基因检测的阳性预测值、阴性预测值、特异性及敏感性均显著高于其他方法。结论血常规与血红蛋白电泳检测在不同地中海贫血基因分型患者中均有异常表现,血常规、血红蛋白电泳检测联合基因检测具有可靠的诊断价值,可为地中海贫血的筛查及诊断起到改善作用。

Objective To analyze the correlation between blood routine combined with hemoglobin electrophoresis and thalassemia genotyping,and to explore the diagnostic value of blood routine examination,hemoglobin electrophoresis and thalassemia gene combined examination in thalassemia.Methods From July 2019 to April 2020,648 patients diagnosed by thalassemia screening in our hospital were selected as thalassemia group,and 600 non thalassemia healthy adults were selected as control group.Blood routine examination and hemoglobin electrophoresis were carried out respectively.When the initial screening results were positive,thalassemia genotyping was carried out,and gene distribution of thalassemia patients was observed,The diagnostic efficacy of different screening methods was evaluated.Results Among 648 patients with thalassemia,376(58.0%)patients wereαtype,223(34.4%)patients wereβtype,49(7.6%)patients wereα+βcomplex type.The levels of MCH,MCV and HBA2 in patients withα,βandα+βcompound thalassemia were significantly higher than those in the control group(P<0.05),and the positive rates of MCH,MCV and HBA2 in patients withα,βandα+βcompound thalassemia were significantly higher than those in the control group(P<0.05).The positive detection rate of HBA2+MCH+MCV+gene test was significantly higher than that of other methods,and the positive predictive value,negative predictive value,specificity and sensitivity of HBA2+MCH+MCV+gene test were significantly higher than those of other methods.Conclusion the blood routine test and hemoglobin electrophoresis test have abnormal performance in different thalassemia genotypes.The combination of blood routine test and hemoglobin electrophoresis test has reliable diagnostic value,which can improve the screening and diagnosis of thalassemia.