Hemochromatosis is a condition in which the patient's body is overloaded with iron. The excess iron accumulates in various organs.

There are many causes of hemochromatosis. Some patients inherit a gene that causes them to absorb too much iron from their food. Others have the disease after taking iron pills for a long time. Red blood cells are very rich in iron, so patients who receive many blood transfusions may experience hemochromatosis. Hemochromatosis also may occur in association with certain types of anemia characterized by destruction of red blood cells (hemolytic anemia).

The most common form of hemochromatosis in the United States is the hereditary type. About one of ten persons in the United States carries the abnormal gene, and two to three per 1000 inherit a copy from both parents. Men have symptoms of hemochromatosis more frequently and at an earlier age than women, because women lose iron in their menstrual periods.

Hereditary hemochromatosis is transmitted genetically from parent to child. Only persons who inherit a copy of the gene from both parents are at risk for the disease. Some of the anemia that can predispose to hemochromatosis, either through destruction of red blood cells or through necessitating multiple blood transfusions, also are hereditary. Hemochromatosis is not contagious.

Hemochromatosis is detected with blood tests that measure the amount of iron stored in the body. Often a biopsy of the liver is needed to confirm the diagnosis. Computed tomography (CT) or magnetic resonance imaging (MRI) of the liver may be useful in the diagnosis of hemochromatosis.

Hemochromatosis is not curable, but treatment can prevent progression of the disease and in some instances reverse the symptoms.

Living With Your Diagnosis
The most common symptoms of hemochromatosis are darkening of the skin, arthritis, weakness, and loss of libido or impotence. The excess iron in the body of a patient with hemochromatosis accumulates in many organs. Patients may have diabetes, liver disease, heart disease, thyroid disease, or malfunction of the gonads. Patients with liver disease are at risk for liver cancer.

The therapy of choice for hemochromatosis is removal of iron from the patient through drawing of blood once or twice a week (phlebotomy). Patients who have anemia (low red blood cell count) and cannot tolerate having their blood removed are treated with desferoxamine, a drug that binds iron. The medicine is pumped under the patient's skin over several hours each day.

There are little or no side effects of phlebotomy among patients who do not have anemia. Allergic reactions to desferoxamine can occur. Desferoxamine also can cause hearing loss. If given to very young children, it can cause poor growth.

The DOs

  • Take your medication as prescribed.
  • Eat a balanced diet.
  • Restrict exercise if you have heart disease due to hemochromatosis. Otherwise exercise as tolerated.
  • Ask your brothers and sisters to be tested for the disease, if you have hereditary hemochromatosis, so they can begin treatment before heart or liver disease develops.

The DON'Ts

  • Do not take iron pills or vitamin C (especially if you are also taking desferoxamine), because it can increase the toxicity of iron. Do not take medication that may cause liver toxicity unless you have the express advice of your physician.
  • Do not drink alcohol, because it increases your risk for liver disease.
  • Avoid shellfish, unless it is very well cooked, because you are at risk for severe infection from several organisms that may occur in shellfish.
  • Restrict exercise if you have heart disease due to hemochromatosis.

When to Call Your Doctor

  •  If you experience fever, chest pain, shortness of breath, or abdominal pain.

For More Information
National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105


Derived from Patient Teaching Guide, © Mosby, Inc. All Rights Reserved

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