What Is Hemochromatosis? Causes, Symptoms, and Treatment

Hemochromatosis is a disorder that causes your body to absorb more iron than it should, a condition called iron overload. It affects about one million people in the United States, making it one of the most common genetic diseases in the country. (1)

The body needs some iron for blood production, specifically for the production of hemoglobin, a protein found in red blood cells. The job of hemoglobin is to carry oxygen from the lungs to all of the body’s tissues. Normally, most of the body’s iron is found in the red blood cells. (2)

Iron is absorbed into the body via the food you eat and any supplements containing iron you take. Healthy people absorb about 10 percent of the iron they consume, whereas people with hemochromatosis can absorb up to 3 times that much. Over time, this can mean that they retain between 5 and 20 times more iron than the body needs. (3)

The body stores that excess iron in the organs, especially the liver, as well as the heart and pancreas, according to Carlos Romero-Marrero, MD, director of the liver disease center at the Cleveland Clinic Florida in Port St. Lucie, Florida.

“The issue when you have too much iron, or iron overload, is that it can lead to chronic liver disease or cirrhosis and increase your risk for liver cancer,” says Dr. Romero-Marrero.

Hereditary Hemochromatosis vs. Secondary Hemochromatosis

There are two kinds of hemochromatosis in adults: hereditary (also called primary hemochromatosis), which is a genetic disease, and secondary. The latter form of the disease is much rarer and is caused by another underlying disease or condition. Blood transfusions are the main cause of secondary hemochromatosis. (4)

Hereditary hemochromatosis is caused by a defect in the gene HFE, which triggers the body to absorb more iron than it needs, says Romero-Marrero. There are two common mutations of HFE: C28Y and H63D. If someone inherits C28Y from both parents, they are at risk for iron overload and developing hemochromatosis. Inheriting H63D from both parents is less likely to cause iron overload.

If a person inherits a mutation from only one parent, they will be a carrier for the disease. Although they’ll typically absorb more iron than the average person, they don’t usually develop hemochromatosis. It’s estimated that 10 percent of the U.S. population carries the gene mutation. (3)

Two rare forms of hemochromatosis, neonatal hemochromatosis and juvenile hemochromatosis, are caused by different gene mutations. (5,6)

Risk Factors for Hemochromatosis

Factors that increase the risk of developing hemochromatosis include these characteristics:

Being Caucasian People of Northern European descent have a higher risk of hemochromatosis than people of other ethnic backgrounds. (7)

Being Male Men have a 24-fold increased rate of the disease compared with women. (8) It’s suspected that menstruation helps protect women from building up iron stores because they lose blood every month with their period.

Older Age A man is most likely to develop symptoms of hemochromatosis between age 40 and 60. In women, symptoms usually appear after age 50 or whenever they stop having their monthly period. (7)

Genetics If a person inherits two copies of the faulty gene C28Y — one from each parent — there’s a higher risk for developing hemochromatosis.

Chronic Liver Disease Individuals with chronic liver disease, including nonalcoholic fatty liver disease, chronic hepatitis C, and particularly alcoholic liver disease, are at an increased risk of iron overload of the liver. This type of iron accumulation is different from hereditary hemochromatosis, although it’s possible to have both hereditary hemochromatosis and another form of liver disease. (9)

Hemochromatosis Life Expectancy

If a person is diagnosed early and treated before the onset of iron overload, hemochromatosis won’t shorten their life expectancy. If the disease progresses to cirrhosis, life expectancy is shortened, and there’s an increased risk of death from liver cancer. (11)

Hemochromatosis Symptoms

A person might have hemochromatosis and not necessarily know they have it, says Romero-Marrero. “There are some people with hemochromatosis who never have symptoms,” he says. About 3 out of 4 people who are experiencing symptoms at the time of diagnosis have abnormal liver function. (11)

The disease can include these symptoms:

• Joint pain
• Fatigue
• Unexplained weight loss
• Abnormal bronze or gray skin color
• Abdominal pain
• Loss of sex drive

Hemochromatosis Diagnosis

Although in the past people could have hemochromatosis for many years or even decades without knowing it, this is seldom the case now. Most people with the disease are identified as children because of abnormalities on routine blood screens or results from genetic tests that may be administered if hemochromatosis is known to run in the family.

These tests may be done to diagnose hemochromatosis:

Noninvasive Imaging (MRI) Noninvasive imaging via magnetic resonance imaging (MRI) using T2*, R2, and R2* measurements has become increasingly accurate for determining iron buildup in the liver and heart. As of 2022, this is now the most common diagnostic approach for hemochromatosis.

Transferrin Saturation Test The transferrin saturation test indicates how much iron is bound to the protein that carries iron in the blood. A value of 45 percent or higher is considered abnormal.

Serum Ferritin Test The serum ferritin test detects the amount of ferritin, which is a protein that stores iron, present in the blood. Levels over 300 micrograms per liter (μg/L) in men and 200 μg/L in women are considered abnormal. Levels above 1,000 μg/L in men or women indicate a high chance of iron overload and organ damage.

Genetic Test If either of the above blood tests shows an abnormal level of iron, a different blood test can check for the presence of two copies of the C282Y gene mutation to confirm hemochromatosis.

Liver Biopsy A liver biopsy may also be performed. In this procedure, a tiny piece of liver tissue is removed and examined for signs of damage or disease. (11)

Hemochromatosis Treatment

“The best way to treat primary hemochromatosis is to get rid of the excess iron by means of phlebotomy, or drawing blood,” says Romero-Marrero. The treatment is basically the same as a routine blood donation, so it’s inexpensive, safe, and routine.

“Usually you start with drawing blood once a week, then gradually drop down to once a month, then once every three months,” he says. Monitoring iron levels is continued to ensure that the person doesn’t become anemic.

“Many people with hemochromatosis will need months of weekly phlebotomies before they get to the iron level that is healthy,” he says.

Hemochromatosis Complications

If hemochromatosis goes untreated, it can damage various parts of the body. Excess iron buildup happens not only in the liver but also in the heart, pancreas, joints, and testicles. Complications can include cirrhosis of liver, heart failure, osteoarthritis, diabetes, and impotence.

Treatment for hemochromatosis can improve many of these secondary conditions, depending on the level of organ damage present at diagnosis.

People with hemochromatosis should also be aware that a high alcohol intake is associated with both a higher concentration of iron in the liver and a higher risk of developing cirrhosis of the liver. (12) Cirrhosis of the liver, in turn, raises the risk of developing liver cancer.

Living With Hemochromatosis: Food and Alcohol

Because people with hemochromatosis absorb more iron than normal, it’s important for them to monitor their diet. Iron-rich foods such as beef, poultry, and organ meats should be limited. Fortified breakfast cereals and dietary supplements that contain iron or vitamin C (which increases iron absorption) should be avoided.

People with hemochromatosis should additionally limit their alcohol intake, and a person with hemochromatosis who has already been diagnosed with cirrhosis of the liver should cut out alcohol completely.