Hemochromatosis Symptoms, Types, and Treatment

Medically Reviewed By Megan Soliman, MD
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Hemochromatosis is the buildup of too much iron in the body. Excess iron damages the body. Possible early symptoms can include abdominal pain, fatigue, joint pain, and loss of interest in sex. Changes in the HFE gene cause the most common type of the condition, hereditary hemochromatosis, also known as primary hemochromatosis.

You can treat hereditary hemochromatosis by having your blood removed on a regular basis, such as with blood donation. You may also have therapeutic blood draws, a procedure known as phlebotomy.

Some people need to take medication. Reducing the amount of iron in your diet can help keep iron levels low.

This article will describe hemochromatosis symptoms, diagnosis, causes, and treatments, including dietary tips. It will also explain the causes and risk factors for three types of hemochromatosis: hereditary, secondary, and neonatal.

Sex and gender terms

Sex and gender exist on spectrums. This article uses the terms “male” and “female” to refer to sex assigned at birth in order to accurately reflect information in source materials.

What are the symptoms of hemochromatosis?

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Jovana Milanko/Stocksy United

The symptoms of hemochromatosis are due to the effect of excess iron in your body’s tissues and organs. However, some people do not experience symptoms.

Also, because the symptoms are vague and common with many other conditions, people can have symptoms for many years before they receive an accurate diagnosis.

Early signs of hemochromatosis

Some early warning signs of hemochromatosis can include:

Contact your doctor right away for any of these symptoms or others that are unusual for you. Also, seek prompt medical care if you are receiving treatment for hemochromatosis but you develop new symptoms that persist, recur, or cause you concern.

Complications of hemochromatosis

A buildup of iron can affect all the organs in the body and cause serious health problems. Without treatment, high iron complications can include:

  • cirrhosis
  • liver cancer
  • liver failure
  • cardiomyopathy
  • diabetes
  • certain bacterial infections
  • arthritis
  • permanent or chronic abdominal pain
  • thyroid disease

When to seek immediate medical care

Seek immediate medical attention (call 911) for these symptoms:

Learn seven symptoms never to ignore with hemochromatosis.

Do hemochromatosis symptoms differ in males and females?

Both males and females can inherit hemochromatosis, but the onset of symptoms can differ. Symptoms usually appear after age 40 years in males and about 10 years later in females.

This difference is because females menstruate and lose blood during each cycle. This reduces the amount of iron that can accumulate in the body. Menopause ends menstruation and blood loss, which allows iron to accumulate and eventually cause symptoms.

Iron damage lowers sex hormone levels, which is consistent with the early signs of erectile dysfunction in males and reduced interest in sex.

Males are more likely than females to experience complications of hemochromatosis.

Signs of the hereditary form of the condition can appear earlier in life in people with certain health conditions that can make them more sensitive to iron overload. These include chronic liver disease, such as hepatitis C, and alcohol use disorder.

What are the different types of hemochromatosis?

There are three types of hemochromatosis: hereditary, secondary, and neonatal. All result in excess iron.

Your body cannot excrete the extra iron. Rather, it stores iron in tissues and organs, particularly the liver, skin, heart, pancreas, and joints. Iron is toxic at high levels and damages these tissues.

Without treatment, hemochromatosis can lead to life threatening organ damage.

Hereditary hemochromatosis

Also known as primary hemochromatosis, this is an inherited tendency to absorb too much iron in the gastrointestinal tract.

Your body needs a certain amount of iron to make new red blood cells. It also has a role in other functions. Usually, your body maintains iron levels by adjusting how much iron it absorbs from the foods you eat. It increases absorption when iron levels are low and decreases absorption when iron levels are high.

People with hereditary hemochromatosis were born with a genetic mutation in the HFE gene. Hereditary hemochromatosis is one of the most common inherited disorders in the United States. Iron overload disorder is another name for it.

Secondary hemochromatosis

Secondary hemochromatosis, also known as iron overload, results from a separate condition or from too much iron in your diet.

For example, someone who receives numerous blood transfusions for certain types of anemia, such as thalassemia, can develop iron overload. The transfused blood has high amount of red blood cells, which contain iron.

The treatment is usually iron chelation. This is a therapy that uses drugs called iron chelators to remove extra iron from the body.

Neonatal hemochromatosis

Injury to the liver of a fetus in the womb causes this form of hemochromatosis. It is a very rare condition.

What causes hereditary hemochromatosis?

More than 100 mutations in the HFE gene are linked to hereditary hemochromatosis. Normally, this gene makes a protein that senses iron and tells cells when to absorb it from the food you eat. Typically, the body takes in about 10% of the iron from the diet.

Two mutations in particular, known as C282Y and H63D, cause most cases. They prevent the HFE protein from working properly. This causes cells to absorb too much iron in the gastrointestinal tract. The body cannot get rid of it through urine or stool, so it builds up.

How common is hemochromatosis?

Hereditary hemochromatosis is most prevalent among white people of Northern European descent, with about 1 in 15 people of this ancestry carrying at least one copy of the C282Y mutation of the HFE gene.

Two copies of the mutation — one from each parent — are necessary to develop hemochromatosis. So, if you have only one copy of it, you are a hereditary hemochromatosis carrier.

This means you do not have signs or symptoms of hemochromatosis, but you can pass the gene to your offspring, who will also be a carrier. If you have a child with a partner who is also a carrier (or who has the condition), your child has a greater chance of having the condition.

In the U.S., about 1 in 300 non-Hispanic white people have hereditary hemochromatosis.

What are the risk factors for hemochromatosis?

Risk factors for hereditary hemochromatosis are a family history of the condition and Northern European ancestry.

Risk factors for secondary hemochromatosis include:

  • receiving frequent blood transfusions for anemia or thalassemia
  • excessive red blood cell production, which leads to red blood cell destruction and release of iron
  • liver disease
  • too much iron in the diet or from iron supplements

How is hemochromatosis diagnosed?

A doctor can confirm a hemochromatosis diagnosis based on the results of blood tests to evaluate:

  • iron level
  • transferrin, which is a protein that binds to iron in the blood
  • ratio of iron to transferrin
  • ferritin, which is a protein that binds to iron in the liver
  • HFE gene mutations
  • liver function

A high level of ferritin and a high ratio of iron to transferrin both point to a hemochromatosis diagnosis. Two copies of the mutated HFE gene will confirm the diagnosis of the hereditary form.

Your doctor may want to perform a liver biopsy to check iron levels and rule out other possible causes of your symptoms. The results may also help plan treatment.

If hemochromatosis is detected early, treatment may stop or reverse organ damage.

If you receive a diagnosis for certain medical conditions and have a family history of hemochromatosis or are of Northern European ancestry, you should contact your doctor right away for an evaluation for hemochromatosis. These conditions include heart disease (such as cardiomyopathy), liver disease, arthritis, and pancreatic disorders (such as diabetes).

Learn more about hemochromatosis diagnosis and testing.

How is hemochromatosis treated?

Treatment for hemochromatosis depends on the type of hemochromatosis, your iron levels, and your symptoms.

Hereditary hemochromatosis

The main treatment for the hereditary form is to lower the body’s excess iron by removing blood, just as if you were making a blood donation. This is a phlebotomy.

The severity of your condition will determine how much blood to remove and how often. A typical prescription is to remove 1 pint of blood once or twice per week. This may continue for several months.

You will need periodic blood tests to measure iron, transferrin, and ferritin. When blood tests show safe levels, your doctor will likely reduce the frequency of phlebotomies to once every 1–3 months. You may get to a maintenance frequency of once every 4–6 months.

Phlebotomy is a very effective way of lowering iron levels and preventing complications of hemochromatosis.

Secondary hemochromatosis

You cannot have phlebotomies if you have the secondary form due to necessary blood transfusions. Instead, your doctor will prescribe a medication that binds to iron. This is called iron chelation. You get rid of the iron through your urine.

Neonatal hemochromatosis

Infants born with hemochromatosis need exchange transfusions. The doctor removes the infant’s blood and replaces it with donor blood and IV immunoglobulin.

For severe liver damage, the infant may need a liver transplant. The biological mother or father can usually donate part of their liver.

What are some diet and nutrition tips for hemochromatosis?

For people with hemochromatosis, the National Institute of Diabetes and Digestive and Kidney Diseases recommends avoiding:

  • iron supplements
  • supplements containing iron, such as multivitamins
  • supplements containing vitamin C, which can increase iron absorption
  • raw or undercooked shellfish, which can lead to serious a infection with Vibrio vulnificus
  • alcohol

If you have liver disease, you should not drink any alcohol, as this can make liver disease worse.

A nutritious, well-rounded diet is best for people with hemochromatosis and for overall health. If you need guidance on what to include in your diet, talk with your doctor or get a referral to a dietitian.

In general, a nutritious diet contains:

  • whole fruits
  • variety of fresh vegetables
  • lean proteins
  • whole grains
  • low fat dairy
  • food with less added salt, sugar, and saturated fat

Learn more about foods and drinks to avoid on a hemochromatosis diet.

What is the outlook for people with hemochromatosis?

If hemochromatosis is detected early enough, regular blood removal (by donation or therapeutic phlebotomy) can prevent associated conditions, such as liver disease, heart disease, arthritis, and diabetes.

Iron chelation is not as effective as phlebotomy at lowering iron levels, but the outlook can still be good for people with secondary hemochromatosis.

If you already have health effects of hemochromatosis at the time of diagnosis, those procedures may not be sufficient to reverse the problems. You may need medication to treat complications, such as cirrhosis.

Surgery may also be necessary, such as for heart problems. If you develop liver failure, a liver transplant may be an option.

Diabetes is one of the most common complications of hemochromatosis. If this happens, treatment includes blood sugar management with diet and medications.


Hemochromatosis is a condition in which there is too much iron in your body. Hereditary hemochromatosis is the most common type.

The condition may cause no symptoms early in life. When symptoms occur, they typically develop in males after age 40 years and in females after age 50 years. Possible early signs of the condition include unexplained fatigue, abdominal pain, joint pain, loss of interest in sex, and, in males, erectile dysfunction.

For hereditary hemochromatosis, regular blood withdrawal is a safe and effective way to lower iron levels and prevent serious complications of the condition.

The gene anomaly that causes hereditary hemochromatosis is common in people of Northern European ancestry. If you have risk factors for hemochromatosis, talk with your doctor about getting checked for the gene mutation. If you know you have it, you can take the necessary precautions, such as regular iron checks.

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Medical Reviewer: Megan Soliman, MD
Last Review Date: 2022 Apr 21
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