Hemochromatosis is a disorder that interferes with iron metabolism, which results in too much iron in the body.

Hemochromatosis occurs when too much iron builds up in the liver. This leads to liver enlargement. The disease may lead to the development of diabetes, skin coloring changes, heart problems, arthritis, testicular atrophy, cirrhosis of the liver, liver cancer, hypopituitarism, chronic abdominal pain, severe fatigue, and an increased risk of certain bacterial infections.

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. 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.

• Joint pain
• Fatigue
• Lack of energy
• Weight loss
• Generalized darkening of skin color (often referred to as bronzing)
• Abdominal pain
• Loss of sexual desire
• Testicular atrophy
• Loss of body hair
• Weakness
• Heart problems
• Symptoms related to the onset of diabetes

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

Blood tests may help make the diagnosis. These include:

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

The diagnosis may be confirmed 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 some 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.

Other tests may include liver function tests (LFT), CT scan, MRI, ultrasound, biphasic helical CAT scan, alpha fetoprotein, PIVKA-II, glucose, hepatitis screening, and ECG.