Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.
Hemochromatosis may be a genetic disorder passed down through families.
• People with this type absorb too much iron through their digestive tract. Iron builds up in the body. The liver, heart, and pancreas are common organs where iron builds up.
• It is present at birth but may not be diagnosed for years.
• A person is more likely to get this disease if someone else in the family has or had the condition.
Hemochromatosis may also occur as a result of:
• Long-term alcohol use and other health conditions.
This disorder affects more men than women. It is common in white people of western European descent.
Symptoms may include any of the following:
• Abdominal pain
• Fatigue, lack of energy, weakness
• Generalized darkening of skin color (often referred to as bronzing)
• Joint pain
• Loss of body hair
• Loss of sexual desire
• Weight loss
Exams and Tests
The health care provider 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:
• Percentage of transferrin saturation (high)
• Genetic testing
Other tests may include:
• Blood sugar (glucose) level
•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 or phlebotomy.
If a genetic defect is confirmed, other blood tests can be used to find out if other family members are at risk for 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’s iron level is normal. This may take many months to do.
• After that, the procedure may be done less often to maintain a normal iron level.
Why 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.
Other health problems such as diabetes, arthritis, liver failure, and heart failure will be treated.
If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed through your digestive tract. Your provider will recommend the following:
• 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 cirrhosis
• Liver failure
• Liver cancer
The disease may lead to the development of:
• Heart problems
• Increased risk for certain bacterial infections
• Testicular atrophy
• Skin color changes
When to Contact a Medical Professional
Call your provider if symptoms of hemochromatosis develop.
Call for an appointment with your 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.
Iron overload; Blood transfusion – hemochromatosis
Bacon BR, Britton RS. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 75.
Ferri FF. Hemochromatosis. In: Ferri FF, ed. Ferri’s Clinical Advisor 2016. Philadelphia: PA: Elsevier; 2016:585-586.