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Hemochromatosis
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Primary hemochromatosis is an inherited disease with an autosomal recessive pattern, which means both copies of the gene have to be altered for it to appear. What breaks down is the body's ability to regulate how much iron it absorbs, and the result is iron overload throughout the body. The checkpoint at the front door fails and iron keeps coming through.
The key piece is called hepcidin, a protein made mainly by the liver whose job is to slow iron absorption in the duodenum, the first stretch of the intestine. That excess iron does not stay floating around: it is stored inside cells as hemosiderin, a form of iron deposit, and over time it ends up killing the cell, which is replaced by fibrous tissue, that is, by scar tissue.
That is why the disease shows up in specific organs. Iron builds up in the liver, the pancreas, the heart, the joints, the skin, and the pituitary, the pea-sized gland that hangs beneath the brain.
In brief
Primary hemochromatosis is an autosomal recessive disorder that disrupts the regulation of iron absorption and causes iron overload throughout the body.
The checkpoint at the front door fails and iron keeps coming through.
Hepcidin, made mainly in the liver, slows intestinal iron absorption; the excess iron is stored in cells as hemosiderin, eventually kills them, and leaves fibrosis behind.
The excess builds up in critical organs: liver, pancreas, heart, joints, skin, and pituitary gland.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingHemochromatosis, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated