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<p>Erythroferrone (ERFE), a protein secreted by bone marrow erythroblasts, is a potent negative regulator of hepcidin and contributes to iron overload, exacerbating iron deposition in bone tissue. Therefore, this disrupts the osteoblast-osteoclast balance, leading to bone loss and osteoporosis. This study was conducted on 60 adult transfusion-dependent β-thalassemic patients and 30 healthy controls matched for age and sex. Patients with a history of bone disease were excluded from the study. Serum Erythroferrone was assayed via Enzyme-Linked Immunosorbent Assay (ELISA) using a commercial Erythroferrone ELISA Kit designated for research purposes only. The erythroferrone level was significantly higher in cases [median (IQR) 7.72 (5.13–10.41) versus controls 0.69 (0.43–0.82), p value &lt; 0.001]. Significant positive correlations were found between erythroferrone level and iron, ferritin, phosphorus, and ALP (<i>r</i> = 0.651&amp; 0.914, 0.575, 0.565; p-values &lt; 0.001). In contrast, significant negative correlations were found between erythroferrone levels and disease duration and haemoglobin (<i>r</i> = -0.282, -0.726; p-value &lt; 0.001). The Median (IQR) of ERFE levels was 12.01 (11.08–13.49) in osteoporotic patients and 8.31 (7.84–9.23) in osteopenic patients, compared with 4.57 (2.55–6.21) in patients with normal BMD (p-value &lt; 0.001). The mean serum ferritin level was 3684.75 ± 877.44 ng/mL (range: 2130–5120) in osteoporotic patients and 3141.1 ± 513.03 ng/mL (range: 2031–3952) in osteopenic patients, compared to 2124.91 ± 671.26 ng/mL (range: 998–3689) in patients with normal bone mineral density (BMD) (p value &lt; 0.001). The ROC curve indicated that a cut-off value of &gt; 7.012 ng/mL for erythroferrone showed a sensitivity of 91.89% and specificity of 100% in detecting abnormal BMD. ERFE serves as a valuable biomarker of bone disease in β-thalassemia major, demonstrating significant correlations with iron overload and strong predictive accuracy for abnormal BMD.</p>

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Erythroferrone as a Predictor of Bone Mineral Density and Fracture Risk in Adults with Transfusion-Dependent β-Thalassemia

  • 期刊论文

  • 发表日期：

    2026年4月1日

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  • Nour EI Hoda Hussien Abdellah,
  • Maha Al Zimity,
  • Hend Mohiey Eldeen,
  • Haydi Sayed Mohamed

摘要

Erythroferrone (ERFE), a protein secreted by bone marrow erythroblasts, is a potent negative regulator of hepcidin and contributes to iron overload, exacerbating iron deposition in bone tissue. Therefore, this disrupts the osteoblast-osteoclast balance, leading to bone loss and osteoporosis. This study was conducted on 60 adult transfusion-dependent β-thalassemic patients and 30 healthy controls matched for age and sex. Patients with a history of bone disease were excluded from the study. Serum Erythroferrone was assayed via Enzyme-Linked Immunosorbent Assay (ELISA) using a commercial Erythroferrone ELISA Kit designated for research purposes only. The erythroferrone level was significantly higher in cases [median (IQR) 7.72 (5.13–10.41) versus controls 0.69 (0.43–0.82), p value < 0.001]. Significant positive correlations were found between erythroferrone level and iron, ferritin, phosphorus, and ALP (r = 0.651& 0.914, 0.575, 0.565; p-values < 0.001). In contrast, significant negative correlations were found between erythroferrone levels and disease duration and haemoglobin (r = -0.282, -0.726; p-value < 0.001). The Median (IQR) of ERFE levels was 12.01 (11.08–13.49) in osteoporotic patients and 8.31 (7.84–9.23) in osteopenic patients, compared with 4.57 (2.55–6.21) in patients with normal BMD (p-value < 0.001). The mean serum ferritin level was 3684.75 ± 877.44 ng/mL (range: 2130–5120) in osteoporotic patients and 3141.1 ± 513.03 ng/mL (range: 2031–3952) in osteopenic patients, compared to 2124.91 ± 671.26 ng/mL (range: 998–3689) in patients with normal bone mineral density (BMD) (p value < 0.001). The ROC curve indicated that a cut-off value of > 7.012 ng/mL for erythroferrone showed a sensitivity of 91.89% and specificity of 100% in detecting abnormal BMD. ERFE serves as a valuable biomarker of bone disease in β-thalassemia major, demonstrating significant correlations with iron overload and strong predictive accuracy for abnormal BMD.