Romanowski Tomasz, Sikorska Katarzyna, Bielawski Krzysztof Piotr
Pracownia Diagnostyki Molekularnej, Miedzyuczelniany Wydział Biotechnologii Uniwersytetu Gdańskiego i Akademii Medycznej w Gdańsku.
Postepy Hig Med Dosw (Online). 2006;60:217-26.
Hereditary hemochromatosis (HH) is a genetic metabolic disease characterized by increased intestinal iron absorption and progressive iron loading in the cells of various organs. Human body iron homeostasis involves a number of complicated processes, some of which are not identified yet. Genetic analysis of patients affected by HH recently led to the discovery of many novel proteins and mechanisms that can influence the uptake, transport, storage, and excretion of iron. It also showed that hemochromatosis is a very complex disease and that the type of mutation can influence its clinical manifestation. This review presents the current knowledge about the mechanisms of iron metabolism and describes the types of hereditary hemochromatosis and the mutations which induce the disease.
遗传性血色素沉着症（HH）是一种遗传性代谢疾病，其特征是肠道铁吸收增加以及各器官细胞中铁的渐进性蓄积。人体铁稳态涉及许多复杂过程，其中一些尚未明确。对HH患者的基因分析最近发现了许多可影响铁摄取、运输、储存和排泄的新蛋白质和机制。研究还表明，血色素沉着症是一种非常复杂的疾病，突变类型可影响其临床表现。本文综述了目前关于铁代谢机制的知识，并描述了遗传性血色素沉着症的类型以及引发该疾病的突变。
