Hemochromatosis - Crozer-Keystone Health System - PA

Hemochromatosis

Hemochromatosis is a hereditary metabolic disease that affects up to one million Americans. It is one of the most common genetic disorders in the U.S.

People with the disease accumulate too much iron in their blood and body. If left untreated, it can cause diseases to develop, such as osteoarthritis and osteoporosis, diabetes, liver disease, heart disease, enlarged spleen, and abnormal skin color.

Symptoms of Hemochromatosis

Each person’s symptoms may vary. Symptoms may include:

  • Lack of energy (lethargy) and weakness
  • Irritability
  • Depression
  • Joint pain
  • Bronze or yellowish skin color
  • Loss of body hair
  • Impotence in men
  • In women, not having a period
  • Infection

Untreated or severe hemochromatosis may lead to the following:

  • Liver function problems and an enlarged liver
  • Abnormal heart rhythm
  • Heart failure
  • Enlarged spleen
  • Diabetes

Symptoms may look like other health problems. Always see your healthcare provider for a diagnosis.

Diagnosing Hemochromatosis

This disease is usually found through a routine blood test. Your provider will take your medical history and give you a physical exam. You may also have one or more of these tests:

  • Iron Levels: People with hemochromatosis have higher levels of iron in their blood.
  • Transferrin saturation (TS) Test: This blood test measures the percentage of transferrin and other proteins that have too much iron. It is helpful in finding the disease early.
  • Ferritin Levels: Ferritin is a protein in the blood. It increases when iron levels in the body increase. It rises most significantly when iron levels are very high.
  • Liver Biopsy: A small sample of liver tissue or cells is removed and checked under a microscope.
  • Genetic Testing: This blood test looks for the gene changes that cause hereditary hemochromatosis.

Treating Hemochromatosis

Treatment may include:

  • Phlebotomy: This procedure removes blood from your body. This is done regularly at first until iron levels return to normal. Then it can be done once or twice a year as needed.
  • Chelation Therapy: This treatment uses medicine to remove iron from your body.
  • Avoiding iron and vitamin C supplements
  • Avoiding too much alcohol
  • Treatment of the resulting diseases or conditions

If your iron levels return to normal before any organs are damaged, you can live a normal lifespan with this disorder.