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Beyond the classic HFE-hemochromatosis, several genetic iron-loading disorders arise from mutations in genes regulating iron homeostasis, such as TFR2, HAMP, HJV, and the SLC40A1 (ferroportin) gene, as well as those involved in iron transport and mitochondrial function. These disorders lead to systemic or localized iron overload, resulting in complications such as liver disease, cardiomyopathy, endocrine dysfunction, and neurodegeneration. This chapter reviews the genetic basis, clinical presentations, and therapeutic approaches, emphasizing the importance of early diagnosis and intervention to mitigate organ damage and improve outcomes.

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Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders

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  • 发表日期：

    2025年

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  • Antonello Pietrangelo

摘要

Beyond the classic HFE-hemochromatosis, several genetic iron-loading disorders arise from mutations in genes regulating iron homeostasis, such as TFR2, HAMP, HJV, and the SLC40A1 (ferroportin) gene, as well as those involved in iron transport and mitochondrial function. These disorders lead to systemic or localized iron overload, resulting in complications such as liver disease, cardiomyopathy, endocrine dysfunction, and neurodegeneration. This chapter reviews the genetic basis, clinical presentations, and therapeutic approaches, emphasizing the importance of early diagnosis and intervention to mitigate organ damage and improve outcomes.