Abstract:

Objective To investigate the roles of mean corpuscular volume（MCV） determination,mean corpuscular hemoglobin（MCH） determination and hemoglobin（Hb）electrophoresis in thalassemia screening.Methods A total of 1 017 patients with thalassemia diagnosed by molecular biologic technique（thalassemia group） and 842 patients without thalassemia（control group） were enrolled for MCV and MCH determinations and Hb electrophoresis. The roles of MCV determination,MCH determination and Hb electrophoresis in thalassemia screening were evaluated.Results The levels of MCV and MCH in thalassemia group were lower than those in control group（P<0.05）. Compared with control group,the levels of HbA₂ were higher in β- and αβ-thalassemia groups and lower in α-thalassemia group（P<0.05）. The level of HbF in β-thalassemia group was higher than that in control group（P<0.05）. There was no statistical significance between static-type α-thalassemia and control groups（P>0.05）. The levels of Hb,MCV,MCH and HbA₂ were lower in light-type and intermediate-type α-thalassemia groups compared with control group（P<0.01）. In α-thalassemia group,MCV determination and Hb electrophoresis had high rates of missed diagnosis. The rates of missed diagnosis were 42.38% for MCV determination,41.56% for Hb electrophoresis and 18.38% for MCH determination. The rates of missed diagnosis of MCV determination,MCH determination and Hb electrophoresis were 64.20%,22.19% and 59.47% in static-type α-thalassemia group and 14.12%,12.98% and 19.47% in light-type α-thalassemia group,respectively. The sensitivities of MCV determination,MCH determination and Hb electrophoresis were 68.34%,83.09% and 74.72%,and the specificities were 82.30%,68.17% and 74.11%,respectively. The sensitivity of MCV and MCH parallel determinations was 83.28%,and the specificity of the combined determination of MCV and MCH parallel determinations with Hb electrophoresis was 85.04%.Conclusions MCV and MCH parallel determinations can improve the sensitivity,and the combined determination of MCV and MCH parallel determinations with Hb electrophoresis can improve the specificity in thalassemia screening.

Key words: Thalassemia, Screening, Mean corpuscular volume, Mean corpuscular hemoglobin, Hemoglobin electrophoresis