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Key Points
- Hemochromatosis is a disease in which too much
iron builds up in your body. Too much iron in your body can lead to organ
damage if it is not treated.
- Hemochromatosis is most often a genetic disease,
caused by inheriting a pair of abnormal HFE genes. Other abnormal genes that
could cause hemochromatosis are being studied.
- Not everyone who has the pair of abnormal HFE
genes will develop hemochromatosis.
- "Carriers" are people who have only one abnormal
HFE gene. They do not usually develop the disease, but they can pass the
abnormal gene on to their children.
- The signs and symptoms of hemochromatosis do not
usually appear until at least age 40 in men and age 50 in women. The disease is
more common in men than women.
- Many of the signs and symptoms of hemochromatosis
are similar to the signs and symptoms of other, more common diseases. Examples
of early-stage signs and symptoms are fatigue (tiredness), joint pain, and
weakness. Examples of mid- and advanced-stage signs and symptoms are arthritis,
heart problems, and liver problems.
- Hemochromatosis is diagnosed based on your
medical and family history, current signs and symptoms, and the levels of
transferrin saturation and serum ferritin in your blood.
- Treatment may include periodic therapeutic
phlebotomy (repeated blood removal, a process that is much like donating
blood), iron chelation therapy (a medicine), changes in the diet, and treatment
of disease complications as needed.
- Frequent therapeutic phlebotomy may be needed at
first to get the iron level back to normal. The treatment may then continue,
less often, to keep the iron at a normal level.
- Fatigue is a common side effect of therapeutic
phlebotomy, especially during periods of aggressive treatment.
- If hemochromatosis is found and treated early,
before organ damage occurs, complications can be prevented and a normal
lifespan is possible.
- Family members (blood relatives) of people with
hemochromatosis should consider having a doctor check their iron levels.
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Living With Links
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