Hereditary hemochromatosis (HH) is a genetic disorder that causes excess iron
retention in the body. This disorder is a common among Caucasians of Northern
In normal individuals, the balance of iron concentration in the body is regulated by the amount of iron stored in the body. Iron may be lost in the sweat, shed from the skin, and excreted from the cells in the intestines. Approximately 1 milligram of iron is lost from the body daily via these routes in a healthy individual. More iron can be lost in women during menstruation. Normally, 1 milligram of iron is regained daily by the intestines from dietary sources.
In hemochromatosis, this regulatory mechanism is impaired and an excess amount of iron is absorbed from the intestines regardless of the iron stores already in the body, resulting in iron overload. Because the body does not have a mechanism to rid the excess iron, this imbalance between gains and losses results in accumulation of the extra iron in some of the organs in the body.
The iron overload in hereditary hemochromatosis can affect many organs in the body including the:
- thyroid, and
As a result of this excess iron build-up in the organs, hemochromatosis can be manifested by dysfunction of the involved organ(s). Signs may include:
- brown skin,
- diabetes mellitus,
- cirrhosis of the liver,
- heart failure, and
- sexual dysfunction.
It is important to note that some individuals may not have any signs or symptoms associated with hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive genetic abnormality, meaning that both copies of the involved gene (one from each parent) are abnormal. The genetic abnormality in hereditary hemochromatosis affects the so-called HFE gene which was discovered in 1996.
Medically Reviewed by a Doctor on 6/20/2014
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