Hoving V, Donker A E, Schols S E M, Swinkels D W
Department of Haematology, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Paediatrics, Máxima Medical Center, Veldhoven, the Netherlands.
Br J Haematol. 2025 Apr;206(4):1067-1076. doi: 10.1111/bjh.20030. Epub 2025 Feb 22.
Iron-refractory iron deficiency anaemia (IRIDA) is a rare hereditary microcytic anaemia characterized by partial or complete resistance to oral iron supplementation, caused by elevated plasma hepcidin levels resulting from pathogenic variants in the TMPRSS6 gene. Although intravenous iron supplementation is often effective, patient responses can vary significantly due to various factors, and potential side effects of this treatment remain unclear. Additionally, evidence-based international guidelines for diagnosing and managing IRIDA are lacking. This review aims to provide patient-tailored treatment strategies, informed by case studies and expert opinion, to address the specific therapeutic needs of both children and adults with IRIDA.
铁难治性缺铁性贫血(IRIDA)是一种罕见的遗传性小细胞贫血,其特征是对口服铁补充剂部分或完全抵抗,由TMPRSS6基因的致病变异导致血浆铁调素水平升高引起。虽然静脉补铁通常有效,但由于各种因素,患者的反应可能有很大差异,而且这种治疗的潜在副作用仍不明确。此外,缺乏基于证据的IRIDA诊断和管理国际指南。本综述旨在通过病例研究和专家意见提供针对患者的治疗策略,以满足IRIDA儿童和成人的特定治疗需求。