Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.
There are two types of hemochromatosis:
- Primary hemochromatosis is a genetic disorder passed down through families. It occurs at birth. People with this condition absorb too much iron through their digestive tract. Iron builds up in the body, especially the liver. A person is more likely to get this disease if someone else in the family has or had the condition.
- Secondary (acquired) hemochromatosis is due to other blood-related disorders (such as thalassemia or certain anemias) or many blood transfusions. Sometimes it occurs in people with long-term alcoholism and other health conditions.
Hemochromatosis affects more men than women. It is common in Caucasians of western European descent.
Symptoms may include any of the following:
- Abdominal pain
- Generalized darkening of skin color (often referred to as bronzing)
- Joint pain
- Lack of energy
- Loss of body hair
- Loss of sexual desire
- Weight loss
Exams and Tests
The doctor or nurse will perform a physical exam. This may show liver and spleen swelling, and skin color changes.
Blood tests may help make the diagnosis. Tests may include:
Other tests may include:
Blood sugar (glucose) level
- Alpha fetoprotein
Echocardiogram to examine the heart's function
- Electrocardiogram (ECG)
to look at the electrical activity of the heart
Imaging tests such as CT scans, MRI, and ultrasound
Liver function tests
The condition may be confirmed with a liver biopsy
If a genetic defect is confirmed, other blood tests can be used to find out if other family members are at risk of iron overload.
The goal of treatment is to remove excess iron from the body and treat any organ damage.
A procedure called phlebotomy is the best method for removing excess iron from the body:
- One-half liter of blood is removed from the body each week until the body iron level is normal. This may take many months to do.
- After that, the procedure may be done less often to maintain normal iron levels.
How the procedure is needed depends on your symptoms and levels of hemoglobin and serum ferritin, and how much iron you take in your diet.
In men, testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics.
Diabetes, arthritis, liver failure, and heart failure should be treated as appropriate.
If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed from your digestive tract. Your doctor or nurse will recommend:
- Do not drink alcohol, especially if you have liver damage.
- Do not take iron pills or vitamins containing iron.
- Do not use iron cookware.
- Do not eat raw seafood (cooked is fine).
- Do not eat foods fortified with iron, such as 100% iron-fortified breakfast cereals.
Untreated, iron overload can lead to liver damage.
Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.
How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.
- Liver cancer
The disease may lead to the development of:
When to Contact a Medical Professional
Call your health care provider if symptoms of hemochromatosis develop.
Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemochromatosis.
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.
Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-343.
Bacon BR, Britton RS. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease Pathophysiology/Diagnosis/Management. 9th ed. Philadelphia, Pa: Elsevier Saunders; 2010:chap 74.
Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.