Pietrangelo Antonello
Chief Internal Medicine Unit and Center for Hemochromatosis, Genomic Medicine & Rare Diseases, Italy, Modena.
Adv Exp Med Biol. 2025;1480:131-143. doi: 10.1007/978-3-031-92033-2_10.
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.
除了经典的HFE型血色素沉着症外，还有几种遗传性铁过载疾病是由调节铁稳态的基因突变引起的，如TFR2、HAMP、HJV和SLC40A1（铁转运蛋白）基因，以及那些参与铁运输和线粒体功能的基因。这些疾病会导致全身或局部铁过载，从而引发诸如肝病、心肌病、内分泌功能障碍和神经退行性变等并发症。本章回顾了其遗传基础、临床表现和治疗方法，强调了早期诊断和干预对于减轻器官损害和改善预后的重要性。
