Impact of Transferrin Levels on Iron Accumulation in Transfusion-Dependent Beta-Thalassemia: A Genotype-Specific Analysis

Transferrin Impact on Iron Overload in TDT

  • Yidan Liang Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University
  • Xinhua Zhang 923(rd) Hospital of the People's Liberation Army
  • Binbin Huang Sixth People's Hospital of Nanning
  • Yushan Huang University of Chinese Academy of Sciences
  • Liuhua Liao Huizhou Central People's Hospital
  • Yueyan Huang Affiliated Hospital of Youjiang Medical University for Nationalities
  • Ken Huang Affiliated Hospital of Youjiang Medical University for Nationalities
  • Jinquan Lao Liuzhou Worker's Hospita
  • Xiaoqin Feng Nanfang Hospital, Southern Medical University
  • Bin Lin Guangzhou Huayin Healthcare Group Co., Ltd.
  • Xingjiang Long Liuzhou People’s Hospital
  • Zhixiang Liu Maternal and Child Health Hospital
  • Weijian Zhu Zhuhai Hospital Affiliated with Jinan University
  • Lian Yu Longyan First Hospital Affiliated to Fujian Medical University
  • Deguo Tang Maternal and Child Health Hospital of Yongzhou City
  • Tianyu Zhong First Affiliated Hospital of Gannan Medical University
  • Yuhua Ye Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University
  • Xiangmin Xu Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital
DOI: https://doi.org/10.5937/jomb0-54839
Keywords: Transferrin; Serum Ferritin; Transfusion-Dependent Beta-Thalassemia; Iron Overload

Abstract


Background: Serum ferritin (SF) is used to monitor secondary iron overload in beta-thalassemia (β-thalassemia). Transferrin (TRF) has been shown to reverse iron accumulation in experimental models, but its role in transfusion-dependent beta-thalassemia (TDT) patients remains unclear. This study aims to explore the relationship between TRF and SF in TDT patients and to reveal the unique connection between specific genotypes and iron metabolism, providing potential therapeutic targets for clinical practice.

Methods: This cross-sectional study includes 817 TDT patients (β0/β0 genotype: n=560; β0/β+ genotype: n=257). We use genotype-phenotype analysis and employ logistic regression and restricted cubic spline (RCS) curves to assess the association between TRF and SF.

Results: Significant differences were observed between the β0/β0 and β0/β+ genotypes in terms of age at first transfusion, transfusion requirements, chelation initiation age, reticulocyte count, red blood cell count, red cell distribution width-coefficient of variation (RDW-CV), fetal hemoglobin (HbF) level, splenomegaly, and SF. β0/β0 patients presented with more severe clinical phenotypes. SF was significantly associated with TRF, HbF, RDW-CV, and chelation therapy. RCS analysis revealed a dose-response relationship with a negative linear correlation between TRF and SF (OR=0.26, P<0.001), indicating that higher TRF levels are linked to lower SF risk.

Conclusion: This study systematically confirms for the first time a significant negative correlation between high TRF levels and high SF risk in TDT patients. This new finding may help clinicians more effectively manage iron overload, especially in patients with different genotypes.

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Published
2025/05/06
Issue
Vol. 44 No. 7 (2025): Journal of Medical Biochemistry
Section
Original paper

Copyright (c) 2025 Yidan Liang, Xinhua Zhang, Binbin Huang, Yushan Huang, Liuhua Liao, Yueyan Huang, Ken Huang, Jinquan Lao, Xiaoqin Feng, Bin Lin, Xingjiang Long, Zhixiang Liu, Weijian Zhu, Lian Yu, Deguo Tang, Tianyu Zhong, Yuhua Ye, Xiangmin Xu

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