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Dr. Andrea Pinto Lopez

Jul 06, 20227 min read

What Is Hemochromatosis?

The information provided herein does not constitute an expert or medical advice, nor intended to replace such advice.


You probably know that your body needs iron to make hemoglobin, but you may have never heard of hemochromatosis. What is this disease? And what causes it? Many questions can arise when you find out that it’s possible to experience problems if you have excessive iron levels. Can you eat too much iron and get sick? Keep reading to learn the answer to these questions and more.

Hemochromatosis definition

Hemochromatosis, which is also known as iron overload, is a condition that happens when your body stores excessive amounts of iron. Although your body needs some iron to function, too much iron can hurt you and damage different organs.

According to the National Human Genome Research Institute, your digestive system typically absorbs iron from the foods you eat. In healthy people, your intestines are able to only absorb the iron you need, and discard excess iron. This protects you from having elevated iron levels.

But in patients with hemochromatosis, the mechanism that regulates iron absorption is damaged. As a result, your body keeps absorbing iron even when you already have excess iron in your blood.

If the condition is left untreated, the excess iron can be deposited in the cells throughout your body. This can affect many different organs and cause long-term complications, including:

Causes of high iron levels in the blood

There are two main causes of hemochromatosis. This disease can be inherited, or it can be the result of other medical conditions or treatments. Let’s go over the main hemochromatosis causes.

Hereditary hemochromatosis

According to the National Organization for Rare Disorders (NORD), classic hereditary hemochromatosis is a term used to describe several genetic disorders that are characterized by excessive iron accumulation.

In this condition, iron accumulation happens slowly over the course of many years. In many patients, symptoms of hereditary hemochromatosis don’t become apparent until they’re between the ages of 40 to 60 years old.

Hemochromatosis is a recessive genetic disorder, which means that you need to inherit two copies of the mutated gene in order to have the disease. A carrier with a single copy of the gene won’t have symptoms of hemochromatosis, but they can pass the gene to their children.

The severity of the symptoms can vary widely between patients. Some patients only have mild symptoms that go unnoticed, while others develop life-threatening complications. If left untreated, hereditary hemochromatosis can lead to severe outcomes, including multiple organ failure.

According to the Mayo Clinic, risk factors for hereditary hemochromatosis include:

  • Genetics: having 2 copies of the mutated HFE gene.
  • Ethnicity: white people of Northern European descent have a higher risk of carrying the mutated gene. Hereditary hemochromatosis is less common amongst people who have Hispanic, Black, and Asian ancestry.
  • Family history: you’re more likely to have the disease if someone in your family also has it, such as a sibling or parent.
  • Sex: men have a higher risk of showing signs and symptoms of hemochromatosis at an earlier age. The risk of symptoms for women increases after going through menopause or having a hysterectomy.

Another cause of hemochromatosis is called juvenile hemochromatosis. This is an extremely rare disease, but it can also be very severe. According to a study published in The Lancet, juvenile hemochromatosis can lead to heart disease, heart failure, cirrhosis, and joint disease. It typically affects children and young adults before the age of 30.

Secondary hemochromatosis

Unlike hereditary hemochromatosis, secondary hemochromatosis isn’t a genetic disorder. Instead, it can be the result of different medical treatments or other diseases. For example, you can be anemic and have hemochromatosis if you receive multiple blood transfusions that cause high iron levels.

According to the Cleveland Clinic, other causes of hemochromatosis include:

  • Iron pills or injections
  • Liver disease, including hepatitis C infection or fatty liver disease
  • Frequent blood transfusions
  • Prolonged kidney dialysis

Hemochromatosis signs and symptoms

As we mentioned above, most people with classic hereditary hemochromatosis don’t show symptoms until they’re around the age of 40-60. Symptoms of secondary hemochromatosis can happen at any age, depending on when the underlying cause started. According to the NHS, early signs and symptoms of hemochromatosis can include:

  • Fatigue
  • Weakness
  • Weight loss
  • Joint pain
  • Abdominal pain
  • Loss of body hair
  • Skin darkening

Hemochromatosis in females

As we mentioned above, women tend to show symptoms of hereditary hemochromatosis later on in life. That’s because women lose some iron during menstruation and pregnancy, which lessens the side effects of high iron levels. However, their risk increases after menopause or pregnancy, since they can start to store more iron at this point in their lives.

Women with hemochromatosis can experience sexual dysfunction, low libido, and irregular or absent periods.

Hemochromatosis in males

Men usually show signs of hereditary hemochromatosis earlier in life. Additionally, men with this disease can develop erectile dysfunction, and fertility problems.

You can learn more about many other topics related to your sexual and general health at STDWatch.com now.


About Hemochromatosis - genome.gov

Classic Hereditary Hemochromatosis - rarediseases.org

Juvenile haemochromatosis - thelancet.com

Hemochromatosis (Iron Overload) - my.clevelandclinic.org

Hemochromatosis - mayoclinic.org

Symptoms - Haemochromatosis - nhs.uk

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