Endocrinology & Metabolic

Hereditary haemochromatosis

Hereditary haemochromatosis is inherited dysregulation of iron absorption, usually from HFE C282Y homozygosity, causing progressive parenchymal iron overload; early recognition and specialist venesection can prevent irreversible liver, endocrine, cardiac and joint damage.

Definition

Hereditary haemochromatosis is an inherited disorder of iron regulation in which inappropriate intestinal iron absorption causes progressive iron overload and deposition in parenchymal tissues. The commonest form is HFE-related disease, usually associated with C282Y homozygosity, but genotype, biochemical loading and clinical expression are not synonymous.

First principles

Low hepcidin leaves iron absorption switched on

Hepcidin is the liver-derived hormone that limits iron release through ferroportin. In HFE-related haemochromatosis, impaired iron sensing keeps hepcidin inappropriately low, so intestinal iron absorption continues despite adequate stores. The body has no effective active route for iron excretion, so iron accumulates over years.

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