Hemochromatosis Health Article

Definition

Hemochromatosis is a disorder that interferes with the body's ability to break down iron, and results in too much iron being absorbed from the gastrointestinal tract.

Causes, incidence, and risk factors

Hemochromatosis occurs when too much iron builds up in the body, particularly the liver. The result is liver swelling.

There are two forms of hemochromatosis: primary and secondary.

Primary hemochromatosis is caused by a problem with your genes or by receiving a large number of blood transfusions which boost your iron levels. Primary hemochromatosis is the most common genetic disorder in the United States, affecting an estimated 1 of every 200 to 300 Americans.

Secondary or acquired hemochromatosis can be caused by diseases such as thalassemia or sideroblastic anemia, especially if the person has received a large number of blood transfusions. Occasionally, it may be seen with hemolytic anemia, chronic alcoholism, and other conditions.

Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. You have a higher risk of hemochromatosis if someone else in your family has or had the condition.

Symptoms

• Abdominal pain
• Fatigue
• 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
• Weakness

Signs and tests

A physical examination shows liver and spleen swelling, and skin color changes.

Blood tests may help make the diagnosis. Tests may include:

• Serum ferritin (high)
• Serum iron (high)
• Percentage of transferrin saturation (high)

Other tests may include:

• Additional blood work, including liver function tests, blood sugar levels, and alpha fetoprotein
• Electrocardiogram (ECG) to look at the electrical activity of the heart
• Imaging tests such as special CT scans, MRI, and ultrasound

The condition may be confirmed and treated with a liver biopsy or phlebotomy, a procedure that removes blood to lower the amount of iron in the body.

Recently, genetic defects have been found in many families with a history of hemochromatosis. Blood tests can be used to look for these genetic changes and confirm the diagnosis of hemochromatosis, as well as determine who may be at high risk of developing the disease.