Hemochromatosis: Symptoms, Treatment, and Prognosis

Did you know that you have metal in your blood? It’s true! Well, in a way. Iron is an essential element involved in blood production. You actually can’t live without it. Sometimes, you can have excessive amounts of iron, which is a condition known as hemochromatosis. It can lead to organ damage if it isn’t treated. Fortunately, hemochromatosis is usually pretty simple to diagnose, and there are effective treatments you can use to manage the condition.

Question 1 of 6:

Background

The condition causes your body to collect and store excessive amounts of iron from the food you eat. The excess iron is stored in places like your heart, liver, and pancreas and can cause organ damage.^{[1]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
2
Iron overload can be dangerous if it isn’t treated. As your body stores excess iron, it can lead to a condition known as iron overload. If your iron levels get too high, it can lead to life-threatening conditions such as liver disease, heart problems, and diabetes.^{[2]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}
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Question 2 of 6:

Causes

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Hereditary hemochromatosis is passed from parents to children. Hemochromatosis is usually caused by a faulty gene that affects how your body absorbs iron from the food you eat. If both of your parents have the faulty gene, you’re at a greater risk of developing the condition.^{[3]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}
- If only 1 parent has the faulty gene, you won’t inherit the condition, but there’s a chance you could pass it on to any children you have.
- Even if both of your parents have it, you may not necessarily develop hemochromatosis.
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Secondary hemochromatosis can be caused by another medical condition. Certain types of anemia, chronic liver disease, and rare diseases like atransferrinemia and aceruloplasminemia can cause excessive amounts of iron to build up in your body and lead to hemochromatosis. Additionally, blood transfusions, iron supplements, and long-term kidney dialysis can also lead to iron overload.^{[4]XTrustworthy SourceNational Heart, Lung, and Blood InstituteResearch and education center within the National Institutes of HealthGo to source}
- Chronic liver diseases like hepatitis C, alcoholic liver disease, and nonalcoholic steatohepatitis can cause your iron levels to build up and lead to hemochromatosis.
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Juvenile hemochromatosis causes iron overload much earlier. Juvenile hemochromatosis causes the same problems in younger people as it does in adults. Symptoms can start to appear between the ages of 15-30.^{[5]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
- This condition is caused by genetic mutations in the hemojuvelin or hepcidin genes.
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Neonatal hemochromatosis is thought to be an autoimmune disease. This is a severe version of the disorder that causes iron to build up in the liver of a baby while it’s still developing in the womb. While the condition isn’t fully understood, it’s believed to be an autoimmune disease that causes the developing child’s body to attack itself.^{[6]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
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Question 3 of 6:

Symptoms

Hemochromatosis can make you feel tired and weak. It can also cause joint pain and abnormal, rapid weight loss, especially as your condition worsens.^{[7]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}
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Some people report erectile dysfunction and irregular or absent periods. Excessive amounts of iron can impact your sexual and reproductive health. Men can have difficulty achieving and maintaining an erection. Women can have unusually irregular periods or may even stop having their periods altogether.^{[8]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}
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Your symptoms can become more severe as the condition progresses. If it’s left untreated, hemochromatosis can start to cause more serious problems. Your joint pain and stiffness can become more severe, especially in your fingers. You can have chest pains, irregular heartbeat, and shortness of breath. You may feel thirsty all of the time and have the constant need to pee. You can also have dark or yellow skin and eyes and swelling in your hands and feet.^{[9]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}
- In some cases, your testicles can get smaller as well.
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Some people with hereditary hemochromatosis may never have symptoms. It’s also common for folks to never notice that they have hemochromatosis. These people will often find out they have the condition through routine blood tests.^{[10]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
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Question 4 of 6:

Diagnosis

If you start having any of the symptoms related to hemochromatosis, make an appointment to see your doctor. Make sure you tell them if you have any family members who have the condition. They’ll be able to examine you to look for signs and symptoms of the condition and diagnose you.^{[11]XTrustworthy SourceNational Heart, Lung, and Blood InstituteResearch and education center within the National Institutes of HealthGo to source}
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Get a blood test to determine your iron levels. If a physical exam isn’t enough for your doctor to confirm a diagnosis, they may order blood tests. They’ll take a sample of your blood and analyze it in a lab to check your iron levels. If they’re too high, you may have hemochromatosis.^{[12]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
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Your doctor may perform other tests to rule out other potential causes. Other medical conditions can also cause excessive amounts of iron to build up in your body. Your doctor may order liver tests, an MRI, or gene testing to confirm a hemochromatosis diagnosis.^{[13]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
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Question 5 of 6:

Treatment

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Reduce your iron levels with therapeutic phlebotomies. A phlebotomy is a procedure that removes some blood from your body to lower your iron levels. Usually about 1 US pint (470 mL) of blood is removed 1-2 times a week, so your body can make more blood and dilute the iron in your body. Once your iron levels balance out, you may need the treatments less often.^{[14]XTrustworthy SourceNational Heart, Lung, and Blood InstituteResearch and education center within the National Institutes of HealthGo to source}
- Regular blood tests and phlebotomies can be an effective way to manage hemochromatosis.
2
Use chelation to reduce iron levels if you can’t undergo phlebotomy. Some folks, such as people with anemia or heart conditions, can’t have their blood drained in a phlebotomy treatment. If that’s the case, you can undergo a treatment called chelation, which involves taking a pill or having medication injected into your body that will remove the excess iron in your blood.^{[15]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
- Chelation is also commonly used to treat thalassemia, a type of anemia that can cause hemochromatosis.
3
Avoid food that contains lots of iron. Because hemochromatosis causes you to absorb excess iron from the food you eat, your doctor may recommend that you avoid uncooked fish and shellfish, which can affect people who have the condition. Additionally, they’ll likely tell you to stop taking iron or vitamin C supplements.^{[16]XTrustworthy SourceNational Heart, Lung, and Blood InstituteResearch and education center within the National Institutes of HealthGo to source}
- Alcohol can affect your liver function, so try to avoid it if you have hemochromatosis. It could make your symptoms and condition worse.
4
Treat any underlying conditions causing secondary hemochromatosis. If your hemochromatosis is caused by conditions such as anemia or liver disease, you can reduce your symptoms by managing the underlying condition with treatments prescribed by your doctor. Keep your iron levels in check by following any lifestyle changes and taking any medications your doctor recommends.^{[17]XTrustworthy SourceNational Heart, Lung, and Blood InstituteResearch and education center within the National Institutes of HealthGo to source}
- For instance, you can take medication to manage a chronic hepatitis C infection or avoid drinking alcohol if you have alcoholic liver disease.
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Question 6 of 6:

Prognosis

While hemochromatosis can cause permanent organ damage in later stages, if it’s diagnosed and treated early, it’s unlikely to result in serious problems. If the condition is caused by another medical condition, you’ll need to treat and manage that condition to reduce the iron levels in your blood to treat and prevent hemochromatosis. See your doctor if you have symptoms and a family history of hemochromatosis so you can catch it early.^{[18]XTrustworthy SourceNational Health Service (UK)Public healthcare system of the UKGo to source}

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Warnings

Never take iron supplements unless it’s recommended by your doctor to avoid elevating your iron levels.^{[19]XTrustworthy SourceMayo ClinicEducational website from one of the world's leading hospitalsGo to source}
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