Hemochromatosis

Hemochromatosis is a condition that can lead to liver disease, heart problems and diabetes.  

Also known as iron overload, hemochromatosis is a condition that causes the body to absorb too much iron from food. Iron is an essential mineral for health, as it makes red blood cells and helps hemoglobin in blood cells carry oxygen. However, it can be poisonous when its levels are elevated. High iron levels can damage the heart, pancreas and, particularly, the liver. It can also lead to reproductive problems and skin color changes. This condition usually affects people later in life, and men are more likely than women to exhibit symptoms.

Causes of Hemochromatosis

There are two types of hemochromatosis: primary hemochromatosis and secondary hemochromatosis:

• Primary hemochromatosis is most common and is caused by a mutation of the gene that controls iron absorption in the body.
• Secondary hemochromatosis can occur in people who have anemia or chronic liver disease and undergo frequent blood transfusions.

Symptoms of Hemochromatosis

Symptoms of this condition tend to develop later in life, as iron toxicity usually takes years to develop. Additionally, some people with high levels of iron in their systems never experience problems, while other experience serious symptoms.

Signs of hemochromatosis include:

• Fatigue
• Weakness
• Irregular heartbeat
• Joint pain
• Stomach pain
• Unexplained weight loss
• Impotence

Diagnosing Hemochromatosis

This condition is difficult to diagnose because early symptoms are similar to the symptoms of other conditions. It is often discovered when blood tests are conducted for other reasons.

There are two key tests to detect iron overload:

• Serum transferrin saturation – This test is used to measure the amount of iron that has bound itself to protein that carries iron in the blood system.
• Serum ferritin – This test is designed to measure the levels of iron stored in the liver.

If either of these tests indicate the possibility of hemochromatosis, additional tests may be needed, including:

• Liver function tests
• An MRI of the liver
• Gene mutation testing
• A liver biopsy

Treatments for Hemochromatosis

The most common treatment for hemochromatosis is to regularly remove blood from the body (phlebotomy) to reduce iron levels. If a patient can’t undergo phlebotomy because of other conditions, a medication that binds to excess iron and allows the body to expel it through urine or stool can be taken.

If a patient is diagnosed in the later stages of hemochromatosis, severe liver damage may already be present, and a liver transplant may be required. Since its inception in 1987, Tampa General Hospital’s liver transplant program has become the top adult liver transplant program in Florida by volume.