Yan Mei-Zhen, Liu Xiao-Long, Wang Yuan-Bai, Jiang Yu-Ying, Zhuang Jian-Long, Wang Geng, Zhuang Qian-Mei
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
Department of Pediatrics, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Dec;32(6):1841-1847. doi: 10.19746/j.cnki.issn.1009-2137.2024.06.031.
To analyze the application value of MCV, MCH and HbA in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.
2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA in screening various types of thalassemia. According to the ROC curve, the best cut-off values of MCV, MCH and HbA in screening for thalassemia in this area were determined.
In this study, a total of 1 801 thalassemia carriers were detected, including 1 341 cases of α-thalassemia, 420 cases of β-thalassemia, and 40 cases of αβ compound thalassemia. The most common genotypes of α-thalassemia and β-thalassemia were -- /αα and β /β , respectively. ROC curves were drawn to evaluate the performance of MCV, MCH and HbA in screening for α-thalassemia, mild β-thalassemia, αβ compound thalassemia, silent α-thalassemia, mild α-thalassemia, and intermediate α-thalassemia. The maximum areas under the curves (AUC) were 0.747, 0.865, 0.724, 0.486, 0.812, 0.841; 0.747, 0.846, 0.703, 0.479, 0.796, 0.903; 0.613, 0.980, 0.909, 0.465, 0.674, 0.996, respectively; and the best cut-off values corresponding to the three screening indicators were 76.15fl, 71.95fl, 77.35fl, 86.15fl, 75.41fl, 61.15fl; 24.35pg, 21.51pg, 25.45pg, 28.65pg, 24.01pg, 20.51pg; 2.45%, 3.05%, 3.55%, 3.25%, 2.45%, 1.65%, respectively.
The levels of MCV, MCH and HbA are correlated with the phenotype of thalassemia, and the detection of these indicators is of great significance for the prevention and control of thalassaemia.
分析平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）及血红蛋白A（HbA）在泉州地区育龄人群地中海贫血筛查中的应用价值，确定该地区相关指标的最佳筛查临界值。
纳入2725对育龄夫妇，进行血常规、血红蛋白电泳及α、β地中海贫血基因检测。采用统计学方法分析地中海贫血基因型分布，比较MCV、MCH及HbA在筛查各型地中海贫血中的性能。根据ROC曲线确定该地区MCV、MCH及HbA筛查地中海贫血的最佳临界值。
本研究共检测出1801例地中海贫血携带者，其中α地中海贫血1341例，β地中海贫血420例，αβ复合型地中海贫血40例。α地中海贫血和β地中海贫血最常见的基因型分别为--/αα和β/β。绘制ROC曲线评估MCV、MCH及HbA在筛查α地中海贫血、轻型β地中海贫血、αβ复合型地中海贫血、静止型α地中海贫血、轻型α地中海贫血及中间型α地中海贫血中的性能。曲线下最大面积（AUC）分别为0.747、0.865、0.724、0.486、0.812、0.841；0.747、0.846、0.703、0.479、0.796、0.903；0.613、0.980、0.909、0.465、0.674、0.996；三个筛查指标对应的最佳临界值分别为76.15fl、71.95fl、77.35fl、86.15fl、75.41fl、61.15fl；24.35pg、21.51pg、25.45pg、28.65pg、24.01pg、20.51pg；2.45%、3.05%、3.55%、3.25%、2.45%、1.65%。
MCV、MCH及HbA水平与地中海贫血表型相关，检测这些指标对地中海贫血的防控具有重要意义。
