Sohal Aalam, Kowdley Kris V
Liver Institute Northwest, Seattle, Washington.
Elson S. Floyd College of Medicine, Washington State University, Spokane, Washington.
Gastroenterol Hepatol (N Y). 2024 Feb;20(2):98-107.
Iron overload disorders are conditions that can lead to increased body iron stores and end-organ damage in affected organs. Increased iron deposition most commonly occurs in the liver, heart, endocrine system, joints, and pancreas. Iron overload disorders may be caused by genetic or acquired causes (transfusion, dyserythropoiesis, and chronic liver disease). The gene C282Y homozygous mutation is the most common cause of hereditary hemochromatosis (HH). Other genes implicated in HH include , and . In the past 2 decades, there have been major advances in the understanding of genetic iron overload disorders. Furthermore, new novel techniques to measure iron content in organs noninvasively, as well as new therapeutic options for the treatment of HH, are currently under development. This article focuses on the latest concepts in understanding, diagnosing, and managing genetic iron overload disorders, particularly HH.
铁过载疾病是一类可导致体内铁储存增加并对受影响器官造成终末器官损害的病症。铁沉积增加最常发生在肝脏、心脏、内分泌系统、关节和胰腺。铁过载疾病可能由遗传或后天因素(输血、红细胞生成异常和慢性肝病)引起。基因C282Y纯合突变是遗传性血色素沉着症(HH)最常见的病因。与HH相关的其他基因包括 、 和 。在过去20年里,对遗传性铁过载疾病的认识有了重大进展。此外,目前正在开发非侵入性测量器官铁含量的新技术以及治疗HH的新疗法。本文重点介绍在理解、诊断和管理遗传性铁过载疾病,尤其是HH方面的最新概念。