Zheng Lin, Huang Hailong, Wu Xiaoqing, Shen Qingmei, Chen Meihuan, Wang Meiying, Su Linjuan, Xu Liangpu
Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 Fujian China.
Indian J Hematol Blood Transfus. 2022 Apr;38(2):352-358. doi: 10.1007/s12288-021-01449-2. Epub 2021 May 27.
Carriers of α-thalassemia exhibit hypochromic microcytosis with mean corpuscular volume (MCV) < 80 fL, mean corpuscular hemoglobin (MCH) < 27 pg, and reduced hemoglobin A (HbA). We studied the distribution and diagnostic efficiencies of these indicators and their combinations in patients with and without alpha-thalassemia. Based on genetic diagnosis, 10,883 participants were divided into alpha-thalassemia group (n = 1655) and negative-for-alpha-thalassemia group (n = 9228). Erythrocyte parameters and hemoglobin analysis of the groups were analyzed. Moreover, we compared the four screening schemes (MCV/MCH, MCV/MCH/HbA, MCV + MCH, MCV + MCH + HbA) to find the best for α-thalassemia screening. The genotypes of --/αα, and -α/αα are the most prevalent with 54.9% and 27.6% in Fujian Province, China. There were significant differences in the distribution of MCV, MCH, and HbA in the two groups. Among the three, MCH exhibited the highest sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy. Although the four screening schemes have their advantages, there are significant differences in their sensitivity and specificity. MCV + MCH had the best diagnostic performance (72.6% sensitivity, 89.0% specificity) as well as the highest Youden index (61.59%). Our results showed that MCH could be used to screen α-thalassemia instead of MCV and HbA. However, it is recommended that MCV/MCH/HbA screening be used in areas with high α-thalassemia incidence to increased sensitivity.
α地中海贫血携带者表现为低色素小红细胞症，平均红细胞体积（MCV）＜80 fL，平均红细胞血红蛋白含量（MCH）＜27 pg，血红蛋白A（HbA）降低。我们研究了这些指标及其组合在α地中海贫血患者和非α地中海贫血患者中的分布及诊断效率。基于基因诊断，10883名参与者被分为α地中海贫血组（n = 1655）和非α地中海贫血组（n = 9228）。对两组的红细胞参数和血红蛋白进行了分析。此外，我们比较了四种筛查方案（MCV/MCH、MCV/MCH/HbA、MCV + MCH、MCV + MCH + HbA），以找出最适合α地中海贫血筛查的方案。在中国福建省，--/αα和-α/αα基因型最为常见，分别占54.9%和27.6%。两组在MCV、MCH和HbA的分布上存在显著差异。其中，MCH的敏感性、特异性、阳性预测值、阴性预测值和诊断准确性最高。虽然四种筛查方案各有优势，但它们的敏感性和特异性存在显著差异。MCV + MCH的诊断性能最佳（敏感性72.6%，特异性89.0%），尤登指数也最高（61.59%）。我们的结果表明，MCH可用于筛查α地中海贫血，而无需使用MCV和HbA。然而，建议在α地中海贫血发病率高的地区使用MCV/MCH/HbA筛查，以提高敏感性。
