Hereditary Hemochromatosis
(Iron Overload)
Medical Author: Dennis Lee, MD
Medical Editor: Jay W. Marks, MD
What is hereditary hemochromatosis?
Hereditary hemochromatosis is an inherited (genetic)
disorder in which there is excessive accumulation of iron in the body (iron
overload). It is a common genetic disorder among Caucasians in the United
States, affecting approximately one in 240 to 300 Caucasians. Individuals affected
with hereditary hemochromatosis may have no symptoms or signs (and have normal
longevity), or they can have severe symptoms and signs of iron overload that
include sexual dysfunction, heart failure,
joint pains, liver
cirrhosis ,
diabetes mellitus,
fatigue, and darkening of skin.
The normal iron content of the body is three to four grams. The
total amount of iron in the body is carefully controlled. The body loses one mg of
iron daily from sweat and cells that are shed from the skin and the inner lining
of the intestines. Women also lose one mg of iron daily on average from. In normal adults the intestines absorb one mg of iron daily from food to replace the lost
iron, and therefore, there is no excess accumulation of iron in the body. When
iron losses are greater, more iron is absorbed from food.
In individuals with hereditary hemochromatosis, the
daily absorption of iron from the intestines is greater than the amount needed
to replace losses. Since the normal body cannot increase iron excretion, the
absorbed iron accumulates in the body. At this rate of iron accumulation, a man
with hemochromatosis can accumulate 20 gram of total body iron by age 40 to 50. This excess iron deposits in
the joints, liver, testicles, and heart,
which causes damage to these organs, and causes signs and symptoms of hemochromatosis.
Women with hemochromatosis accumulate iron at a slower rate than men because
they lose more iron than men due to iron loss from menstruation and breastfeeding. Therefore, they typically develop signs and symptoms of organ damage due to
excess iron 10 years later then men.
Next: How is hemochromatosis inherited? »
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