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.