Hereditary hemochromatosis (HH) is a
genetic disorder that causes excess iron
retention in the body. This disorder is a common among Caucasians of Northern
European origin, affecting almost one in every 250 people.
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
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
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
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.
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