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Hemochromatosis

Hemochromatosis

Hemochromatosis, also known as iron overload, is when the body absorbs or builds up too much iron for it to process. Much of the iron that the body contains and absorbs is in the red blood cells. However, when it absorbs too much, the extra iron gets transferred to the surrounding organs, namely the skin, joints, pancreas, heart, and liver.

Iron is essential to the growth and development of your body, but in limited amounts and the right places. When iron starts getting sent and stored in the liver, heart, and pancreas, it can lead to severe health conditions and even death. Hereditary hemochromatosis is a genetic condition that passes from generation to generation, but you typically don’t see its effects until the middle of your life.

Signs and Symptoms

Hemochromatosis is a slowly developing condition that you’re born with but that you often won’t be aware of until it happens. It takes time for the body to build up and store enough iron that it starts being stored excessively in the surrounding organs.

It’s detectable with early testing, but if you don’t know that your parents are carriers of the condition, you may not know to test for it. While hereditary hemochromatosis is a genetic condition, you can also get iron overload from certain liver diseases, blood disorders like thalassemia, and from receiving too many blood transfusions.

Here are a few of the signs and symptoms of hemochromatosis.

  • Joint swelling and stiffness

  • Chronic fatigue

  • Skin color changes

  • Trouble focusing and remembering things

  • Abdominal and belly pain

  • Impotence in males, and lack of sex drive

  • Liver or iron blood test abnormalities or an enlarged liver

  • Diabetes

  • Heart failure symptoms including shortness of breath

  • EKG (a recording of the electrical activity of the heart) abnormalities

Causes and risk factors

Hemochromatosis is primarily a genetic condition known as hereditary or genetic hemochromatosis. However, there’s also secondary hemochromatosis, which is when multiple blood transfusions and certain forms of anemia cause it. Men are more likely to manifest symptoms of hemochromatosis in their early to late forties, while women are more prone to symptoms after menopause and into their early sixties. Here are the risk factors for developing hemochromatosis.

  • Male gender

  • European ancestry

  • Having a family history of hemochromatosis

What can hemochromatosis lead to?

Part of the reason that hemochromatosis is so dangerous is that it can lead to serious and life-threatening conditions. An excess of iron in the liver, pancreas, and heart can lead to cirrhosis, diabetes, and heart failure. Eventually, excess iron left untreated has the potential to lead to organ failure and death.

Treatment options

Because hemochromatosis is caused by having too much iron in your body, the first treatment will be to reduce your iron levels. This includes removing blood from your body (phlebotomy), because iron is mainly stored in your red blood cells. This process is similar to donating blood and should be performed by a medical professional after a proper diagnosis.

Iron chelation therapy is another treatment option where iron is removed from the body by certain medications. Examples of these are deferoxamine and deferasirox.

You may also be advised to:

  • Avoid iron supplements or multivitamins that contain iron

  • Avoid vitamin C supplements, which can promote iron absorption

  • Limit alcohol consumption

  • Avoid uncooked seafood

If you think that you or someone you know has hemochromatosis, you should make an appointment with your physician. They will be able to run tests to confirm a diagnosis and give you the treatment that you need.

 

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