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Peer-reviewedCC BY-NC-NDAnnals of hematology

Analysis of the diagnostic efficacy of hemoglobin capillary electrophoresis for thalassemia in children under 2 years old in Southern Fujian (Minnan) Region, China.

  1. 1Department of Gastroenterology, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, 362000, China.
  2. 2Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, 362000, China.
  3. 3Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, 362000, China. [email protected].

Abstract

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.

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BibTeX
@article{liu2026analysis,
  title = {{Analysis of the diagnostic efficacy of hemoglobin capillary electrophoresis for thalassemia in children under 2 years old in Southern Fujian (Minnan) Region, China.}},
  author = {Xiaolong Liu and Qianmei Zhuang and Meizhen Yan and Chunqiang Liu and Geng Wang and Baojia Huang},
  journal = {Annals of hematology},
  year = {2026},
  month = jul,
  doi = {10.1007/s00277-026-07186-8},
  url = {https://europepmc.org/article/MED/42901972},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Analysis of the diagnostic efficacy of hemoglobin capillary electrophoresis for thalassemia in children under 2 years old in Southern Fujian (Minnan) Region, China.
AU  - Xiaolong Liu
AU  - Qianmei Zhuang
AU  - Meizhen Yan
AU  - Chunqiang Liu
AU  - Geng Wang
AU  - Baojia Huang
PY  - 2026
DA  - 2026/07/01
JO  - Annals of hematology
DO  - 10.1007/s00277-026-07186-8
UR  - https://europepmc.org/article/MED/42901972
AB  - 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.
SN  - 0939-5555
SN  - 1432-0584
ER  -