Hereditary hemochromatosis

This page was reviewed under our medical and editorial policy by

Maurie Markman, MD, President, Medicine & Science

This page was reviewed on February 22, 2022.

Hereditary hemochromatosis (HH) is an inherited disorder that causes your body’s iron regulation to go awry. The protein hepcidin, which regulates iron production in your cells, goes into overdrive. Excess deposits of iron can cause tissue damage and eventually organ failure. The organs most likely to be affected are your:

  • Liver
  • Pancreas
  • Joints
  • Heart
  • Skin
  • Pituitary gland

Most people with this condition are diagnosed in their 40s and 50s. Because women regularly lose blood (and iron) during menstruation, they tend to be diagnosed later, typically after menopause.

Though HH requires lifelong regular visits, a simple blood therapy is available as treatment. Plus, early treatment can help you avoid troublesome complications such as organ damage. Your liver, for example, can be especially vulnerable to excess iron, which increases the risk of liver cancer in HH patients.


Hereditary hemochromatosis often has no symptoms. In the early stages, some patients describe a general feeling of fatigue or weakness and pain in joints.

When present, symptoms can include:

  • Weight loss
  • Abdominal pain
  • Loss of sexual desire

Once HH is advanced, your skin may appear to have a bronze tint. (This is how it got its name—bronzed skin was one of the first clinical features associated with the disorder. It’s the same reason the condition is sometimes called “bronze diabetes.”)

How hereditary hemochromatosis is diagnosed

Patients are born with this condition, but may be diagnosed after:

  • Blood tests show liver enzymes are elevated
  • Follow-up tests show high levels of serum ferritin (a blood protein that stores iron).
  • Follow-up tests show high levels of transferrin saturation (transferrin is a protein that carries iron in the blood)

If blood tests show that you have higher-than-normal iron levels, your doctor may order what’s called an HFE mutation analysis. If you’re found to have a mutation in the HFE gene, this would confirm your diagnosis of HH. The HFE mutation analysis will likely report on three gene mutations: C282Y, H63D and S65C.

The earlier you’re diagnosed and seek treatment, the better your chances of preventing serious complications.

Risks associated with hereditary hemochromatosis

Left untreated, hereditary hemochromatosis can harm many organs and lead to serious complications.

HH patients are at an increased risk of developing liver damage and liver cancer, particularly a type called hepatocellular carcinoma. The most common of liver cancers, hepatocellular carcinoma can start as a single tumor that grows or as many small cancers throughout the liver. The latter is the most common in people with chronic liver damage (cirrhosis).

HH also may cause the following issues:

  • Enlarged liver
  • Liver scarring
  • Blockage in the portal vein (carries blood from your digestive system to your liver), which may result in portal hypertension
  • Advanced-stage liver disease

Excess iron may harm other organs and increase your risk of:

  • Other cancers, such as colorectal and breast cancers 
  • Diabetes
  • Impotence or decreased sex drive
  • Joint pain
  • Abnormal heart rhythms
  • Heart failure

Risk factors for hereditary hemochromatosis

If either of your parents has the gene mutation, there’s nothing you can do about inheriting it.

You’re at much higher risk of developing HH if both your parents have the gene mutation and you inherit two variants in the HFE gene, one from each of your parents. However, you can inherit two copies of a mutated gene from your parents and not develop signs and symptoms of HH.

If you have one parent with the mutated gene and you inherit a copy of it, you may not have symptoms or have only mild symptoms. The correct copy of the gene seems to regulate iron absorption properly.

Parents may be silent carriers and not have symptoms of the disease. In this case, they still can pass it on to their children. About 10 percent of the U.S. population carry the defective HFE gene, according to the National Human Genome Research Institute.

If you’re pregnant and at risk of having a child with hereditary hemochromatosis, you may be treated with intravenous (IV) immunoglobulin to lessen the likelihood of your infant having severe iron overload.

If you have a first-degree relative (such as a sibling or a parent) with HH, you may want to consider genetic testing.

Men with HH are at higher risk of developing severe liver disease than women. About one out of every 10 men with HH develops severe liver disease, according to the Centers for Disease Control and Prevention.

Treatment of hereditary hemochromatosis

A hematologist (blood doctor), gastroenterologist (digestive system doctor) or hepatologist (liver doctor) treats this condition.

The treatment involves removing blood from your body to rid it of excess iron. Blood is removed through a process called phlebotomy. It’s the same process used when you donate blood.

To start, your doctors may remove a pint of blood once or twice a week for up to a year, possibly longer. Taking a pint of blood should lower your ferritin levels, which will continue to be tested periodically to ensure they stay within the low end of the normal range. Normal is a ferritin level of 50 to 100 nanograms per liter (ng/L), according to the American College of Gastroenterology.

Once your iron levels are normal, you will need maintenance therapy. This typically involves removing a pint of blood three to six times a year for the rest of your life. Some patients require more frequent phlebotomies. An annual ferritin test will determine how much blood needs to be removed and how often.

Treatment can improve symptoms, including fatigue and abnormal liver tests. It may also help prevent organ damage—and other related conditions such as liver disease, heart disease, arthritis and diabetes. However, if you have cirrhosis, your risk of developing liver cancer is greater, and returning your iron to normal levels may not help.

If you’re someone who cannot undergo phlebotomy, you may be prescribed medicines known as chelating agents—taken by mouth or via IV—that attach to the iron in your body and get expelled when you urinate.

Some patients may be candidates for liver transplants.

Self-care if you have hereditary hemochromatosis

You most likely don’t need to limit your dietary iron intake while undergoing treatment. If your liver is damaged, don’t drink alcohol because it could cause further damage. Some doctors may recommend you avoid raw seafood or shellfish because it could put you at risk for a serious infection.

Other ways to help prevent complications include:

  • Stay up to date on vaccines, especially for hepatitis A and B.
  • Don’t take multivitamins or vitamin C supplements.

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