A number of genetic disorders can result in the accumulation of excess iron in the body. These causes of hereditary hemochromatosis include defects in genes encoding HFE, transferrin receptor 2, ferroportin, hepcidin, and hemojuvelin. Hepcidin, with its cognate receptor, ferroportin, has emerged as a central regulator of iron homeostasis; all of the known causes of hemochromatosis appear to prevent this system from functioning normally. The most common form of primary hemochromatosis is that caused by C282Y mutation of the HFE gene. This mutation is most prevalent among Northern Europeans. Although the frequency of the homozygous genotype is approximately 5 per 1000, the disease itself is quite rare because the clinical penetrance of the genotype is very low.

中文翻译：

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血色素沉着病：遗传学和病理生理学。

许多遗传疾病会导致体内铁的积累。遗传性血色素沉着症的这些原因包括编码HFE，转铁蛋白受体2，铁转运蛋白，铁调素和血juvelin的基因缺陷。铁调素及其同源受体铁转运蛋白已成为铁稳态的主要调节剂。所有已知的血色素沉着病病因似乎都在阻止该系统正常运行。原发性血色病最常见的形式是由HFE基因的C282Y突变引起的。这种突变在北欧人中最普遍。尽管纯合基因型的频率约为每1000个中有5个，但是由于该基因型的临床渗透率非常低，因此疾病本身非常罕见。