Energy-efficiency validation of MCV and MCH for thalassemia screening
TANG La-mei1,2, HE Jing3, LIU Dong-bin2, HU Min1
1. The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China; 2. Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China; 3. The Second Affiliated Hospital of Hunan University of Traditional Chinese Medicine, Changsha, Hunan 410005, China
Abstract：Objective To analyze the MCV and MCH values of different genotypes of thalassemia. To verify the screening efficiency of the consensus MCV and MCH cut-off values with reference to the 2020 Expert Consensus on the Management of Thalassemia in Pregnancy (hereinafter referred to as the consensus), and to provide data references for clinical diagnosis, treatment and genetic counseling. Methods We selected the subjects who underwent pre-marriage examination and pregnancy examination in Hunan Provincial Maternal and Child Health Care Hospital from October 2016 to February 2021. MCV and MCH were detected by fully automated blood cell analyzer, three common deletion type α thalassemia mutations by Gap-PCR, and three common α thalassemia point mutations and 17 common β thalassemia point mutations by RDB-PCR. The data about 3,234 samples with positive genetic testing results were collected for statistical analysis. Results Among the 3,234 positive samples of thalassemia, MCV and MCH values gradually decreased with the aggravation of clinical typing of thalassemia. The average values of MCV and MCH of silent α-thalassemia, mild thalassemia αCSα/αα and CAPM/N genotypes were all higher than the consensus cut-off values, and the missed diagnosis rates were 61.73%, 79.37% and 100%, respectively. The mean values of MCV and MCH of mild β thalassemia βEM/N genotype were near the consensus cut-off values, and the missed diagnosis rate was 35.0%. The mean values of MCV and MCH of the other genotypes (except for individual compound leukemia) were below the consensus cut-off values, and the missed diagnosis rates were about 0%-5%. Conclusion Different thalassemia genotypes have corresponding distribution ranges of MCV and MCH values. Screening of thalassemia carriers according to the consensus recommended cut-off values (MCV<82 fl and/or MCH < 27 pg) may lead to high missed diagnosis of silent thalassemia and the αCSα/αα, βEM/N, and CAPM/N genotypes of mild thalassemia. Simultaneous screening of couples for MCV and MCH can substantially improve the screening energy efficiency of screening-only pregnant women.
唐腊梅, 何敬, 刘栋宾, 胡敏. MCV、MCH 用于地中海贫血筛查的能效验证[J]. 实用预防医学, 2022, 29(9): 1080-1084.
TANG La-mei, HE Jing, LIU Dong-bin, HU Min. Energy-efficiency validation of MCV and MCH for thalassemia screening. , 2022, 29(9): 1080-1084.
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