The application value of blood routine combined with hemoglobin electrophoresis in clinical gene diagnosis of thalassemia
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 with α-thalassemia and β-thalassemia were lower than those in the control group,and the levels of RBC,Hb,and MCH in patients with complex αβ-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％),positive predictive value (93.33％),negative predictive value (85.14％),accuracy (88.81％)],MCH test[sensitivity (89.55％),specificity (92.54％),positive predictive value (92.31％),negative predictive value (89.86％),accuracy (91.04％)],and HbA+HbA2 combined test[sensitivity (88.06％),specificity (88.06％),positive predictive value (88.06％),negative predictive value (88.06％),accuracy (88.06％)],but the difference was not statistically significant (P>0.05). Conclusion There are significant differences in red blood cell parameters and Hb electrophoresis detection between healthy individuals and patients with thalassemia,and the differences vary among different genotypes. The combination of blood routine and hemoglobin electrophoresis index detection has reliable diagnostic efficacy in the diagnosis of thalassemia,and has positive significance for the screening and diagnosis of thalassemia.
万方数据
维普
