To investigate differences in the relative expression levels of the novel iron regulatory erythroid factors hepcidin, HIF1α, HIF2α, and ERFE in children with β-thalassemia exhibiting different serum ferritin (SF) levels. A total of 93 children with β-thalassemia were enrolled from the First Affiliated Hospital of Guangxi Medical University between October 2022 and May 2023. Participants were categorized based on their SF levels: 64 with SF>1000 μg/L and 29 with SF<1000 μg/L. ELISA assays were used to determine the relative expression levels of hepcidin, HIF1α, HIF2α, and ERFE between the two groups. The odds ratio (OR) for hepcidin protein was 0.999 (p<0.05), with an area under the curve (AUC) of 0.650 (p<0.05). Sensitivity and specificity were 46.9% and 82.8%, respectively, with a cutoff value of 1.710 ng/mL. The OR for HIF1α protein was 2.352 (p<0.05), with an AUC of 0.703 (p<0.05). Sensitivity and specificity were 43.8% and 89.7%, respectively, with a cutoff value of 2.115 ng/mL. Lower hepcidin levels and higher HIF1α levels were associated with an increased likelihood of iron deposition in children with β-thalassemia. Conclusions: Hepcidin and HIF1α appear to be promising biomarkers for assessing iron deposition in β-thalassemia. Therefore, it is necessary to further investigate their potential as therapeutic targets for β-thalassemia and other iron deposition related disorders.<Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry nameend="c2" namest="c1"> What is Known: • Patients with transfusion-dependent thalassemia require iron chelation therapy. • Hepcidin and HIF1α are recently identified iron regulatory erythroid factors. </entry> </row> <row> <entry nameend="c2" namest="c1"> What is New: •In children with β-thalassemia, hepcidin protein levels are negatively correlated with iron deposition, whereas HIF1α protein levels are positively correlated. • Hepcidin and HIF1α may serve as novel biomarkers for iron deposition in β-thalassemia, providing potential value in evaluating iron deposition severity when inflammation and infection are excluded. </entry> </row> </tbody> </tgroup> </Table>

Predictive value of hepcidin and HIF1α protein levels for iron deposition in β-thalassemia

期刊论文
发表日期：

2025年11月18日

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Yaxuan Cao,
Jianming Luo

摘要

To investigate differences in the relative expression levels of the novel iron regulatory erythroid factors hepcidin, HIF1α, HIF2α, and ERFE in children with β-thalassemia exhibiting different serum ferritin (SF) levels. A total of 93 children with β-thalassemia were enrolled from the First Affiliated Hospital of Guangxi Medical University between October 2022 and May 2023. Participants were categorized based on their SF levels: 64 with SF>1000 μg/L and 29 with SF<1000 μg/L. ELISA assays were used to determine the relative expression levels of hepcidin, HIF1α, HIF2α, and ERFE between the two groups. The odds ratio (OR) for hepcidin protein was 0.999 (p<0.05), with an area under the curve (AUC) of 0.650 (p<0.05). Sensitivity and specificity were 46.9% and 82.8%, respectively, with a cutoff value of 1.710 ng/mL. The OR for HIF1α protein was 2.352 (p<0.05), with an AUC of 0.703 (p<0.05). Sensitivity and specificity were 43.8% and 89.7%, respectively, with a cutoff value of 2.115 ng/mL. Lower hepcidin levels and higher HIF1α levels were associated with an increased likelihood of iron deposition in children with β-thalassemia.

Conclusions: Hepcidin and HIF1α appear to be promising biomarkers for assessing iron deposition in β-thalassemia. Therefore, it is necessary to further investigate their potential as therapeutic targets for β-thalassemia and other iron deposition related disorders.

What is Known:

• Patients with transfusion-dependent thalassemia require iron chelation therapy.

• Hepcidin and HIF1α are recently identified iron regulatory erythroid factors.

What is New:

•In children with β-thalassemia, hepcidin protein levels are negatively correlated with iron deposition, whereas HIF1α protein levels are positively correlated.

• Hepcidin and HIF1α may serve as novel biomarkers for iron deposition in β-thalassemia, providing potential value in evaluating iron deposition severity when inflammation and infection are excluded.