- Hemochromatosis is a condition that causes an overload of iron in the blood.
- Many people do not show any symptoms, but some experience fatigue and joint pain.
- It can either be inherited or caused by receiving multiple blood transfusions.
- Visit Insider's Health Reference library for more advice.
Iron is a mineral that's crucial for our bodies to properly function. Iron helps create hemoglobin and myoglobin, molecules that are transporting oxygen throughout your body.
But it's possible to have too much of it in your blood. This is a dangerous and potentially life-threatening condition known as hemochromatosis.
Here's what you need to know about the symptoms, complications, causes, and risk factors of hemochromatosis.
Symptoms of hemochromatosis
However, in people who do show symptoms, Bona says the most common signs are fatigue and joint pain. Additionally, some patients with hemochromatosis may notice a darkening of their skin color, says Bona.
You may exhibit symptoms beyond this if the hemochromatosis has gone on to affect various organs in your body, and it may even lead to organ failure, says Caroline Piatek, MD, hematologist at Keck Medicine of USC and associate professor in the Jane Anne Nohl Division of Hematology at the Keck School of Medicine of USC.
For example, hemochromatosis may affect the:
- Pancreas, which can lead to diabetes
- Pituitary gland and gonads, which can lead to decreased libido and impotence
- Heart, which may cause arrhythmias or heart failure
- Liver, which may lead to cirrhosis
The most dangerous of these complications are iron overload in the liver and heart, since heart failure and cirrhosis can both be fatal, says Piatek.
What causes hemochromatosis?
There are two main types of hemochromatosis: primary and secondary.
Primary hemochromatosis results from abnormalities in the gene that regulates iron metabolism. This is also referred to as hereditary hemochromatosis, since it is most commonly caused by the HFE gene. It is also one of the most common genetic disorders.
Inheriting these abnormal genes does not guarantee that you will develop hemochromatosis. That being said, inheriting these abnormal genes from both of your parents is the top risk factor for developing hemochromatosis.
Secondary hemochromatosis is when medical conditions or treatments result in an overload of iron. Most commonly, Piatek says the culprit is getting multiple blood transfusions. She says some conditions that require chronic blood transfusions, which may lead to hemochromatosis, are:
- Thalassemia syndromes
- Sickle cell disease
- Bone marrow failure syndromes
- Aplastic anemia
- Myelodysplastic syndromes
- Hematologic malignancies
These cases can be tricky since the treatment of the underlying condition is causing the iron overload. In these situations, Piatek says patients often need specific therapy to manage the transfusion-associated iron overload. Examples of these treatments are iron chelation therapy and therapeutic phlebotomy.
Some other medical conditions or situations that are risk factors for hemochromatosis are:
- Liver disease
- Hepatitis C
- Receiving kidney dialysis
- Taking iron pills or injections
Additionally, hemochromatosis is more common in certain groups of people, including:
- Men, particularly over the age of 40 (they are more likely to develop it since women lose iron during menstruation)
- People of Northern European descent
Since hemochromatosis doesn't always show symptoms, it can be tricky to know if you have it. It's important to see your doctor regularly for check-ups to make sure you're in good health.
If you have a family history of hemochromatosis, be sure to let your doctor know so they can conduct the proper testing and discuss next steps with you.