Hemochromatosis

Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.

Causes

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:

• Other blood disorders, such as thalassemia or certain anemias . Too many blood transfusions over time may lead to iron overload.

  Thalassemia

  Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin. Hemoglobin is the p...

  

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  Anemias

  Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...

  

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  Blood transfusions

  There are many reasons you may need a blood transfusion:After knee or hip replacement surgery, or other major surgery that results in blood lossAfter...

   

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• 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

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:

• Ferritin level

  Ferritin level

  The ferritin blood test measures the level of ferritin in the blood. Ferritin is a protein inside your cells that stores iron. It allows your body ...

  

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• Iron level

  Iron level

  A serum iron test measures how much iron is in your blood.

  

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• Percentage of transferrin saturation (high)
• Genetic testing

Other tests may include:

• Blood sugar (glucose) level
• Alpha fetoprotein

  Alpha fetoprotein

  Alpha fetoprotein (AFP) is a protein produced by the liver and yolk sac of a developing baby during pregnancy. AFP levels go down soon after birth. ...

  

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• Echocardiogram to examine the heart's function

  Echocardiogram

  An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...

  

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• Electrocardiogram (ECG) to look at the electrical activity of the heart

  Electrocardiogram (ECG)

  An electrocardiogram (ECG) is a test that records the electrical activity of the heart.

  

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• Imaging tests such as CT scans, MRI, and ultrasound
• Liver function tests

The condition may be confirmed with a liver biopsy or phlebotomy.

Liver biopsy

A liver biopsy is a test that takes a sample of tissue from the liver for examination.

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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.

Treatment

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.

Outlook (Prognosis)

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.

Possible Complications

Complications include:

• Liver cirrhosis
• Liver failure
• Liver cancer

The disease may lead to the development of:

• Arthritis
• Diabetes
• 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.

Prevention

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.