Zheng Lin, Yin Nuolan, Wang Meiying, Huang Hailong, Lin Na, Zhang Shuyu, Su Linjuan, Xu Liangpu
Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Department of School of Public Health, Fujian Medical University, Fuzhou, Fujian, China.
PLoS One. 2025 Aug 4;20(8):e0329365. doi: 10.1371/journal.pone.0329365. eCollection 2025.
To determine the optimal cutoffs of the three indicators (MCV, MCH and HbA2) for alpha-thalassemia screening and to evaluate the validity of these indicators in Fujian Province, China.
We conducted a retrospective analysis on the results of specimens received from May 2016 to April 2023. Receiver operating characteristic (ROC) curves were used to confirm the optimal cutoffs of the screening indicators. And the effectiveness of different combined screening methods was evaluated in patients with and without alpha-thalassemia.
The optimal cutoffs of MCV, MCH, and HbA2 were 77.85, 27.05 and 2.55, respectively. Among them, the area under the ROC curve of MCH was 0.912, and it was the best of the three parameters used for alpha-thalassemia screening.
The results can help clinicians and laboratory technicians perform genetic counseling and prenatal diagnosis for patients. It also provide a reference for alpha-thalassemia genotype distributions in our region and the optimal cutoff values of MCV, MCH and HbA2.
确定三种指标（平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）和血红蛋白A2（HbA2））用于α地中海贫血筛查的最佳临界值，并评估这些指标在中国福建省的有效性。
对2016年5月至2023年4月接收的标本结果进行回顾性分析。采用受试者工作特征（ROC）曲线确定筛查指标的最佳临界值。并在有和无α地中海贫血的患者中评估不同联合筛查方法的有效性。
MCV、MCH和HbA2的最佳临界值分别为77.85、27.05和2.55。其中，MCH的ROC曲线下面积为0.912，是用于α地中海贫血筛查的三个参数中最佳的。
这些结果有助于临床医生和实验室技术人员为患者进行遗传咨询和产前诊断。它还为我们地区α地中海贫血基因型分布以及MCV、MCH和HbA2的最佳临界值提供了参考。
