What is hemochromatosis?

Hereditary hemochromatosis is one of the most common genetic disorders in the U.S. It is a metabolic disorder that causes increased absorption of iron from the digestive tract. The iron is deposited in the body tissues and organs. Over time, the iron builds up in the body where it may become toxic and cause damage. Excess iron in the heart, liver, pancreas, and pituitary causes the more severe complications of this condition.

Other forms of hemochromatosis include:

  • Juvenile hemochromatosis. This affects adolescents and young adults ages 15 to 30. This form leads to a severe overload of iron, which can cause heart and liver disease.
  • Neonatal hemochromatosis. In this form, iron builds up very quickly in an infant's liver and can cause severe organ damage.
  • Transfusion-related hemochromatosis. This is a result of iron overload caused by many blood transfusions in people with disorders that cause them to not make enough red blood cells.

What causes hemochromatosis?

Hemochromatosis is a genetic disease, meaning it is inherited. It is most common in white people. Males and females are equally affected by the disease.

You may be born with hemochromatosis if you inherit two hemochromatosis genes — one from each parent.  If you have only one hemochromatosis gene, you don’t have symptoms and are said to be a carrier of the gene. A carrier has an increased chance to have a child with hemochromatosis.

Once parents have had a child with hemochromatosis, there is a 1 in 4, or 25% chance with each future pregnancy for another child to be born with hemochromatosis. First-degree relatives of people with known hemochromatosis should undergo screening for the disorder.   

Iron overload from hereditary hemochromatosis is more common in men than women. The age of onset is also earlier in males than females. The reasons for these differences are thought to be because of the protective effect of iron loss through menstruation in females. In other words, females do not build up iron as quickly over time.

What are the symptoms of hemochromatosis?

The following are the most common symptoms of hemochromatosis. However, each person may experience symptoms differently. Symptoms may include:

  • Lethargy and weakness
  • Irritability
  • Depression
  • Joint pain
  • Bronze or yellowish skin color
  • Loss of body hair
  • Impotence in men
  • Amenorrhea in women
  • Infection

Untreated or severe hemochromatosis may lead to the following:

  • Liver function abnormalities and enlargement
  • Abnormal heart rhythm
  • Heart failure
  • Enlarged spleen
  • Diabetes
The symptoms of hemochromatosis may look like other medical problems. Always consult your health care provider for a diagnosis.

How is hemochromatosis diagnosed?

Hemochromatosis is usually found through a routine blood test. Along with a complete medical history and physical exam, you may have one or more of these tests:

  • Iron levels. People with hemochromatosis have higher levels of iron in their blood.
  • Transferrin saturation test (TS). A type of iron study (blood test) that measures the percentage of transferrin and other mobile, iron-binding proteins saturated with iron. It is helpful in finding early hemochromatosis.
  • Ferritin levels. Ferritin is a protein in the blood that increases when iron stores in the body increase. It rises most significantly when iron levels are quite high.
  • Liver biopsy. A procedure done to remove tissue or cells from the liver for examination under a microscope and to weigh the iron in the liver.
  • Genetic testing. A blood test that looks for the mutations that cause hereditary hemochromatosis.


Specific treatment for hemochromatosis will be determined by your health care provider based on:

  • Your age, overall health, and medical history
  • Extent of the disease
  • Your tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disease
  • Your opinion or preference

Treatment may include:

  • Periodic phlebotomy. A procedure that involves removing blood from the body. Done regularly at first, once iron stores have returned to normal it can be done once or twice a year as needed.
  • Chelation therapy. Treatment with a drug that tightly binds and removes iron from the body.
  • Avoiding iron and vitamin C supplements
  • Avoiding excessive alcohol intake
  • Treatment of the resulting diseases or conditions

If hereditary hemochromatosis is discovered and iron stores returned to normal before damage to organs occurs, people with it will live a normal lifespan.

What are the complications of hemochromatosis?

Untreated hemochromatosis can lead to:

  • Liver function abnormalities and enlargement
  • Abnormal heart rhythm
  • Heart failure
  • Enlarged spleen
  • Diabetes

Living with hemochromatosis

Hemochromatosis is a life-long condition that can cause complications if iron levels in the blood are not kept at normal levels. Therefore, periodic phlebotomy and/or chelation therapy is needed to reduce iron levels. It is important that you work with your health care provider to monitor and manage your iron levels. You should also avoid iron and vitamin C supplements, and excessive intake of alcohol.

Key points about hemochromatosis

  • Hereditary hemochromatosis is a metabolic disorder that causes increased absorption of iron from the digestive tract.
  • Increased iron is deposited in the body tissues and organs where it may become toxic and cause damage.
  • Early symptoms may include lethargy and weakness, irritability, depression, joint pain, bronze skin, and loss of body hair.
  • Treatment includes periodic phlebotomy and/or chelation therapy to reduce iron levels.

Next steps

Tips to help you get the most from a visit to your health care provider:

  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.
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Treatments for Hemochromatosis

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Symptoms and Screenings for Hemochromatosis

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Causes and Preventions for Hemochromatosis

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Education and Resources for Hemochromatosis

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