Analysis of the diagnostic efficacy of hemoglobin capillary electrophoresis for thalassemia in children under 2 years old in Southern Fujian (Minnan) Region, China
摘要
To establish age-specific diagnostic cut-off values for HbF and HbA2 in children under 2 years in Southern Fujian, China, across α-thalassemia group(carriers and patients),β-thalassemia group(carriers), and a negative control group, and evaluate their diagnostic efficacy for precise thalassemia screening. A retrospective analysis was conducted on 1,072 children under 2 years old. Participants were divided into α-thalassemia group(carriers and patients,331 samples), β-thalassemia group(carriers,220 samples), α+β-thalassemia group(10 samples), and negative control groups (511 samples), and further stratified into three age groups: 0–6 months (172 samples), 7–12 months (532 samples), and 13–24 months (368 samples). ROC curve analysis determined optimal cut-off values for HbF and HbA2, with AUC, sensitivity, and specificity calculated. Normal reference ranges were also analyzed. In the negative control group, mean HbA2 and HbF varied significantly with age. For β-thalassemia, optimal HbA2 cut-offs were 2.6% (0–6 months, AUC=0.849, sensitivity 80.6%, specificity 85.9%), 3.15% (7–12 months, AUC=0.979, sensitivity 97.9%, specificity 98.8%), and 3.7% (13–24 months, AUC=0.990, sensitivity 98.9%, specificity 98.7%). Optimal HbF cut-offs were 10.1% (0–6 months, AUC=0.720), 4.75% (7–12 months, AUC=0.920), and 2.35% (13–24 months, AUC=0.931). For α-thalassemia, HbA2cut-offs showed limited diagnostic value (AUC ≤0.667). HbF and HbA2 levels are significantly influenced by age. Age-stratified cut-off values for HbA2demonstrate excellent diagnostic efficacy for β-thalassemia and can serve as primary screening indicators. For α-thalassemia, HbA2 measurement alone is insufficient, highlighting the need for complementary testing methods to improve diagnostic accuracy.