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(Hereditary Hemochromatosis; Primary Hemochromatosis)


James Peter Adam Hamilton

, MD, Johns Hopkins University School of Medicine

Last full review/revision Sep 2020| Content last modified Sep 2020
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Topic Resources

Hemochromatosis is a hereditary disorder that causes the body to absorb too much iron, causing iron to build up in the body and damage organs.

In the United States, over 1 million people have hemochromatosis. Men are affected more often than women. The disorder is potentially fatal but is usually treatable. (See also Overview of Iron Overload.)

People absorb iron from food they eat. Most of the iron is contained in red blood cells.

  • Iron can accumulate in and damage any part of the body.

  • People may develop liver disorders or diabetes or simply feel tired.

  • Blood tests identify people who require genetic testing, which can confirm the disorder.

  • Removing blood (phlebotomy), done periodically, can prevent further damage.

Causes of Hemochromatosis

Hemochromatosis is hereditary. It can be caused by several different genetic mutations.

The most common mutation causes

  • Type 1 hemochromatosis

Type 1 hemochromatosis involves mutation of the HFE (homeostatic iron regulator) gene. It occurs in people of Northern European background. The person must inherit a mutated gene from both parents to be affected. The HFE gene makes a protein that senses the amount of iron in the body. A mutation in the gene allows too much iron to be absorbed from the diet.

Other mutations cause similar disorders

  • Type 2 hemochromatosis (sometimes called juvenile hemochromatosis)

  • Type 3 hemochromatosis (also called transferrin receptor 2 [TFR2] mutation hemochromatosis)

  • Type 4 hemochromatosis (also called ferroportin disease)

  • Hypotransferrinemia

  • Aceruloplasminemia

TFR2 mutations impair the body's ability to control iron absorption into certain cells. Although the types of hemochromatosis vary in age at which they appear, the symptoms and complications of iron overload are the same in all.

Symptoms of Hemochromatosis

Usually, symptoms develop gradually, and the disorder may not be noticed until iron accumulation is excessive. Often no symptoms appear until middle age or later. Sometimes the first symptoms are vague, such as fatigue or weakness, and may not be noticed or may be attributed to some other disorder. In women, symptoms usually start after menopause because of the loss of iron during menstrual bleeding and the increased requirement for iron during pregnancy.

Symptoms vary because iron accumulation can damage any part of the body, including the brain, liver, pancreas, lungs, or heart. The first symptoms, particularly in men, may be those of cirrhosis (due to liver damage) or those of diabetes (due to pancreas damage). Or, the first symptoms, particularly in women, may be vague and affect the whole body. Fatigue is an example. Liver disease is the most common problem. The following problems can also occur:

In many men, levels of male hormones decrease. Erectile dysfunction may occur.

Hemochromatosis can worsen neurologic disorders that are already present.

Diagnosis of Hemochromatosis

  • Blood tests

  • Genetic testing

  • Sometimes liver biopsy

Identifying hemochromatosis based on symptoms may be difficult. However, blood tests can identify people who should have further evaluation. These tests measure blood levels of

  • Iron

  • Ferritin, a protein that stores iron

  • Transferrin, the protein that carries iron in blood when iron is not inside red blood cells

If the ferritin level and the percentage of iron in transferrin (transferrin saturation) are high, genetic testing is usually done to confirm the diagnosis. A liver biopsy and/or magnetic resonance imaging (MRI) of the liver may be necessary to determine whether the liver has been damaged.

Genetic testing is recommended for people with hemochromatosis, and all of their first-degree relatives (siblings, parents, and children) should be screened for hemochromatosis by measuring their iron levels.

Lab Tests for Hemochromatosis

Treatment of Hemochromatosis

  • Removing blood (phlebotomy)

Usually, removing blood (phlebotomy) is the best treatment. It prevents additional organ damage but does not reverse existing damage. Phlebotomy is initially done once or sometimes twice a week. Each time, about 500 milliliters (1 pint or 1 unit) of blood is removed until the iron level and percentage of iron in transferrin are normal. Phlebotomy is then done periodically to keep iron stores at normal levels.

People should be treated if they have diabetes, heart failure, erectile dysfunction, or other complications. People with cirrhosis should have a liver ultrasound every 6 months to screen for liver cancer.

People can eat a normal, healthy diet, including iron-containing foods. Doctors may tell people to limit alcohol consumption because alcohol can increase iron absorption and also increases the risk of cirrhosis.

With early diagnosis and treatment of hemochromatosis, a long, healthy life is expected.

More Information about Hemochromatosis

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

  • provides education and awareness about symptoms, diagnosis and treatment of hemochromatosis

  • Iron Disorders Institute: provides information about disorders that cause iron imbalance, including testing and tips for living with these disorders

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