Clinical significance of HbA,HbA2 and HbF combined with thalassemia gene test in diagnosis of thalassemia
Objective In this study,hemoglobin A(HbA),hemoglobin A2(HbA2)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,HbA2 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,HbA2 and HbF levels in the α-thalassemia patients,β-thalassemia patients and the healthy group were compared,and the receiver operating characteristic(ROC)curve of HbA,HbA2 and HbF combined with the thalassemia gene test for thalassemia was analyzed.Results In the study group,the detection rate of α-thalassemia was 34.29%,and the detection rate of β-thalassemia was 54.29%;in the control group,the detection rate of α-thalassemia was 31.43%,and the detection rate of β-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 in α-thalassemia patients,β-thalassemia patients,and healthy group,the difference was not statistically significant(P>0.05).Comparison of HbF and HbA2 levels in α-thalassemia patients,β-thalassemia patients,and healthy group,the difference was statistically significant(P<0.05).HbF level of(5.87±1.56)%and HbA2 level of(5.62±1.67)%in β-thalassemia patients were higher than those in α-thalassemia patients[(1.67±0.52)%and(1.51±0.34)%]and healthy group[(1.21±0.19)%and(2.81±0.92)%];HbA2 level in the patients with α-thalassemia was lower than that in the healthy group,while the HbF level was higher than that in the healthy group,and the difference was statistically significant(P<0.05).The ROC curve was plotted with HbA,HbA2,HbF and thalassemia genetic test as test variables,setting 1 as diseased and 0 as not diseased as effect variables:the AUC value of the diagnosis of HbA,HbA2,HbF was 0.703,with 95%confidence interval(CI)of(0.554,0.852),a sensitivity of 67.3%and a specificity of 73.3%;the area under the curve(AUC)value of combined diagnosis of HbA,HbA2,HbF and thalassemia genetic test was 0.852,with 95%CI=(0.736,0.967),a sensitivity of 83.6%,and a specificity of 86.7%.Conclusion In the diagnosis of thalassemia,HbA,HbA2 and HbF combined with thalassemia gene test has high diagnostic efficacy,and can effectively identify the disease types of thalassemia,which is of great significance for the subsequent related treatment.
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