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Hemochromotosis is a disorder characterized by iron overload. The body absorbs and stores too much iron. Our bodies do not have a mechanism to get rid of extra iron. Iron plays a major role in developing mature red blood cells.  Patients with hemochromatosis have normal iron intake levels, but abnormal regulation of iron absorption. This results in increased iron absorption and leads to overload. Iron overload first occurs in the liver where most of the iron is stored. The extra iron builds up in organs and damages them.  Without treatment, the disease can cause organs to fail.

Hemochromotosis is often a genetic disorder passed on from a parent. The parent passes on a defective gene called HFE, which is responsible for regulating the amount of iron the body absorbs. Patients who are transfusion dependent are also at risk for hemochromatosis. Red blood cell transfusions contain iron which builds up in the body and can affect organs.

What are symptoms of hemochromatosis?

Joint pain is the most common complaint of people with hemochromatosis. Other symptoms include fatigue, abdominal pain, changes in the color of the skin (bronze color), shortness of breath, swelling, increased thirst, loss of sex drive, and heart problems. Signs and symptoms are related to accumulation of iron in the body’s organs.

How is hemochromatosis diagnosed?

Hemochromatosis can generally be diagnosed by using blood tests.

What is the treatment for hemochromotosis?

In patients with genetic hemochromotosis, therapeutic phlebotomy (removal of a unit of blood) will generally manage the disease. In transfusion dependent patients, therapeutic phlebotomy is not feasible. Iron chelation therapy may be used. A medication is given by IV or injection which binds to the excess iron and allows it to be removed by the kidneys. The drug is usually given using a portable infusion pump. Patients should limit the amount of dietary iron they consume. Multivitamins with iron and iron supplements should be avoided.

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