Hemochromatosis, or iron overload disease, is one of the most common inherited disorders.
Hereditary hemochromatosis, sometimes called iron overload disease, causes the body to absorb too much iron from foods. Iron is important because it is part of hemoglobin, a protein in the blood that carries oxygen from the lungs to all tissues of the body. But too much iron can build up in the organs, especially the liver, heart and pancreas. Only about 10 percent of people who have the genes that cause hemochromatosis have an iron overload severe enough to cause organ damage. Without treatment, this buildup can lead to life-threatening organ damage.
One of two common mutations in the HFE gene is found in 85 percent of people who have hereditary hemochromatosis.
Hemochromatosis symptoms often occur earlier in men than women, and men may experience more severe symptoms of the disease related to organ damage, such as diabetes, loss of sex drive or impotence or heart failure.
Doctors may also order other laboratory or imaging tests to confirm the diagnosis and check for problems caused by the disease.
For people who have medical problems that make it inadvisable to remove blood, doctors may recommend an oral or injected medication that causes the body to expel iron through the urine or stool in a process called chelation.
Returning iron to normal levels relieves the fatigue and most symptoms of hemochromatosis; it also prevents complications from occurring, but it can’t repair the damage already done.
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