Study On Cut-off Value of MCV and MCH Screening on Thalassemia in Pregnant Women
10.11969/j.issn.1673-548X.2025.01.024
- VernacularTitle:红细胞参数筛查孕妇地中海贫血截断值研究
- Author:
Meifan DUAN
1
;
Li ZHANG
1
;
Qiang WEI
1
Author Information
1. 610041 成都,四川大学华西第二医院妇产科暨出生缺陷与相关妇儿疾病教育部重点实验室
- Publication Type:Journal Article
- Keywords:
Thalassemia;
Gravidae;
Mean corpuscular volume;
Mean corpuscular hemoglobin;
Hemoglobin electrophoresis;
Gene type
- From:
Journal of Medical Research
2025;54(1):129-133
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the cut-off values of mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)for thalassemia screening among pregnant women in Sichuan.Taking genetic testing as the golden standard,the efficacy of MCV or MCH,Hb electrophoresis alone,MCV or MCH combined with Hb electrophoresis in thalassemia screening of pregnant women was evaluated.Methods A total of 554 pregnant women with red blood cell parameters MCV ≤90fl or MCH≤29pg were catagorized in the study group.All 554 pregnant women were tested for Hb electrophoresis and thalassemia gene.At the same time,640 pregnant women who had been excluded thalassemia by genetic test were catagorized in the control group randomly.The Receiver Operating Characteristic(ROC)curves was drawn by software SPSS 23.0 to find out the cut-off values and efficacy of MCV or MCH in screening thalassemia of pregnant women.The efficacy of MCV or MCH,Hb electrophoresis alone,MCV or MCH combined with Hb electrophoresis in thalassemia screen-ing of pregnant women was analyzed.Results A totla of 159 pregnant women were diagnosed as thalassemia by genetic testing(28.7％,159/554).There are 108 cases of α-thalassemia(67.9％,108/159),47 cases of β-thalassemia(29.6％,47/159),and 4 cases ofα-combined β-thalassemia(2.5％,4/159).The most common gene types of α-thalassemia were-α3.7/αα(29.6％,47/159)and--SEA/αα(27.7％,44/159).The most common gene type of β-thalassemia was β-CD17(11.3 percent,18/159).The level of Hb,MCV and MCH of pregnant women with thalassemia was lower than that in the control group.The level of Hb,MCV and MCH of pregnant women with β thalassemia was lower than that with α thalassemia.The level of Hb,MCV and MCH of pregnant women with-SEA/αα thalassemia was lower than that with-α3 7/αα thalassemia.The differences were all statistically significant(P＜0.05).The cut-off value of MCV and MCH for screening thalassemia was 84.4 fl and 28.1pg,respectively.When using 84.4fl as the cut-off value of MCV to screen thalassemia,the sensitivity and specificity was 90％and 78％,respectively.When using 28.1pg as the cut-off value of MCH to screen thalassemia,the sensitivity and specificity was 92％and 81％,respectively.Taking genetic testing as the gold standard,comparing the cut-off value of MCV or MCH with MCV or MCH screening method,when screening the 554 pregnant women with Hb electrophoresis alone,the result showed lower sensitivity and higher rate of missed diagnoses.All differences were statistically sig-nificant(P＜0.05).When screening thalassemia in the study group by using MCV or MCH combined with Hb electrophoresis,the speci-ficity was much lower.All differences were statistically significant(P＜0.05).Conclusion The most common α-thalassemia gene types were-α3.7/αα and--SEA/αα in Sichuan.The most common β-thalassemia gene type was CD17.The appropriate cut-off value of MCV and MCH for screening thalassemia among pregnant women in Sichuan was 84.4 fl and 28.lpg,respectively,with high sen-sitivity and specificitym and low rate of missing diagnoses.Using Hb electrophoresis alone for screening thalassemia kept higher rate of missing diagnoses.While using Hb electrophoresis combined with MCV or MCH for screening thalassemia did not reduce the rate of missed diagnoses.
