Haemochromatosis (or hemochromatosis) type 1 (also HFE hereditary haemochromatosis or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like most animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible orga...
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Haemochromatosis (or hemochromatosis) type 1 (also HFE hereditary haemochromatosis or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like most animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, heart, skin, gonads, joints, and the pancreas; patients can present with cirrhosis, polyarthropathy, adrenal insufficiency, heart failure or diabetes. The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of Celtic descent.
Since the regulation of iron metabolism is still poorly understood, a clear model of how haemochromatosis operates is still not available. A working model describes the defect in the HFE gene, where a mutation puts the...
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