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

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...

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

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.