Hereditary hemochromatosis is a group of hereditary conditions that cause your body to absorb too much iron. They’re usually treated by regularly removing blood to reduce iron levels.

People with hemochromatosis can have excessive iron buildup in organs such as their:

  • skin
  • heart
  • liver
  • pituitary gland
  • joints
  • pancreas

The buildup of iron in these organs can lead to many serious issues such as liver damage or heart conditions. With prompt and regular treatment, many of these problems can be avoided.

Read on to learn more about hereditary hemochromatosis including symptoms, treatment options, and the outlook for someone with this condition.

Doctors divide hereditary hemochromatosis into four types:

  • Type I (classic): Type I hereditary hemochromatosis is a recessive condition caused by mutations in the HFE gene. Symptoms usually begin between 40 and 60 in men and after menopause in women.
  • Type II (juvenile): Juvenile hereditary hemochromatosis is usually first seen before the age of 30. It’s a recessive condition caused by mutations in the HAMP or HJVgenes.
  • Type III (TFR2-related): TFR2-related hereditary hemochromatosis is a recessive condition caused by mutations in the TFR2 gene. Most people develop symptoms in their 20s.
  • Type IV (ferroportin disease): Ferroportin disease is a dominant condition caused by changes in the SLC40A1 gene. People are usually diagnosed when they’re middle aged, and women often develop symptoms about 10 years later than men.

What’s the difference between primary and secondary hemochromatosis?

Primary hemochromatosis is caused by genes inherited from your parents. Secondary hemochromatosis has another identifiable underlying cause, such as excessive iron in your diet or multiple blood transfusions.

The most common cause of secondary hemochromatosis is repeated blood transfusions to treat severe forms of anemia such as:

Learn more about secondary hemochromatosis here.

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Most people with hereditary hemochromatosis never develop symptoms. According to the Centers for Disease Control and Prevention (CDC), when symptoms do appear, they can include:

Symptoms typically develop after the age of 40, and women usually develop symptoms later than men. Juvenile hemochromatosis usually develops before the age of 30.

If left untreated, hereditary hemochromatosis can cause difficulties such as:

Hereditary hemochromatosis is caused by genes passed to you by your parents. Type I–III hereditary hemochromatosis are caused by recessive gene mutations, meaning you need to receive an associated gene from both parents to develop the disease.

Ferroportin disease is caused by a dominant gene mutation, meaning it develops even if you only receive the mutation from one parent.

In the United States, non-Hispanic White individuals are at the highest risk of hereditary hemochromatosis. They have about a 1 in 300 chance of developing it.

According to the CDC, men with hereditary hemochromatosis are more likely than women to develop complications and often develop complications at an earlier age.

Doctors usually start the diagnostic process by:

  • reviewing your personal and family medical history
  • asking you about your symptoms
  • performing a physical examination, where they’ll look for:

If your doctor suspects that you may have hemochromatosis, they’ll likely order blood tests to measure your:

  • levels of iron
  • levels of the protein that carries iron in your blood (transferrin)
  • ratio of iron to transferrin
  • levels of the protein that stores iron in your liver (ferritin)
  • liver function
  • fasting blood sugar

Doctors can also use a blood test to look for gene mutations associated with hereditary hemochromatosis.

A liver biopsy may be necessary in some cases to confirm that you have too much iron in your body and rule out other liver disease.

Without treatment, iron can build up in your organs and can cause permanent organ damage.

The main treatment for hereditary hemochromatosis is phlebotomy to reduce iron levels in your body. Phlebotomy is the medical term for removing blood. Usually doctors recommend starting with having a pint of blood removed once or twice a week for several months.

As your iron levels improve, you can decrease the frequency that you receive your transfusions. You may eventually be able to reduce them to 2–3 times per year.

Phlebotomy is sometimes combined with the medication erythropoietin to stimulate the production of new red blood cells.

Medications called chelating agents may be administered for people unable to undergo phlebotomy, although they’re not as effective.

You may need additional treatment if you have organ damage. For example, a liver transplant may be considered for people with end stage liver disease.

If hereditary hemochromatosis is well controlled, there’s limited risk of death or complications. If severe organ damage has already occurred, people usually live less than 2 years. Liver cancer causes about 30% of deaths.

Higher levels of liver scarring is the main factor linked to having a poorer outlook.

You may be able to prevent organ damage by:

  • strictly avoiding alcohol to reduce liver and pancreatic damage
  • taking steps to prevent infections such as avoiding uncooked fish and shellfish and receiving vaccinations
  • avoiding medications and supplements that are harmful to the liver
  • having regular liver ultrasounds and blood tests for tumor markers
  • receiving regular blood tests to check your ferritin (iron stores) levels

Hereditary hemochromatosis is a genetic condition that causes the buildup of iron in your body. It’s important to receive a diagnosis and treatment as soon as possible to avoid organ damage.

If hemochromatosis is well managed, many people can live full lives without serious problems. Without treatment, people tend to have a poor outlook.