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What is hereditary hemochromatosis?
Hereditary hemochromatosis is a disease in which your body has too much iron. means you have high iron levels. It’s considered “iron overload.” This damages your tissues and organs. It can lead to liver damage, arthritis, heart problems, and diabetes.
There are four types of hereditary hemochromatosis:
- Type 1 and 4: Symptoms first appear in adulthood. Men get symptoms between age 40 and 60; women get symptoms after menopause. Type 1 is the most common.
- Type 2: Symptoms may appear in childhood. By age 20, it affects a person’s sex hormones. Girls may begin their periods regularly. However, it may stop after a few years. Puberty can be delayed in boys. If untreated, both men and women could have heart disease by age 30.
- Type 3: This type is a mix of types 1 and 2. Symptoms may appear by age 30.
Symptoms of hereditary hemochromatosis?
Symptoms are different for every person. Men have symptoms more often than women. Most people don’t have symptoms until they are older. Symptoms can change depending on the amount of iron you get from your food, iron pills, alcohol, and infections.
You may feel tired. You may have stomach and joint pain. You may have a reduced sex drive. Women may have abnormal periods or early menopause. Your skin may turn bronze or gray. It can cause cirrhosis (permanent liver damage), diabetes, and heart problems.
What causes hereditary hemochromatosis?
It is genetic. It is caused by the HFE gene. If you have a relative with the disease, get a blood test to see if you have it or high levels of iron. If your lab results are normal, you might need to repeat the blood test every few years.
How is hereditary hemochromatosis diagnosed?
Hereditary hemochromatosis is difficult to diagnose because the symptoms look like other diseases. Your doctor will ask you about your symptoms, do a physical exam, and order blood tests to check the amount of iron in your blood and liver. A blood test also can tell if you have the HFE gene that causes the disease. Tell your doctor if you have a relative with the disease. There are benefits of knowing if you have the HFE gene. However, there are risks, too. It may affect your opportunity to get health insurance. That’s why HFE gene testing is not usually recommended for children younger than 18.
Can hereditary hemochromatosis be prevented or avoided?
Hereditary hemochromatosis cannot be prevented. Early diagnosis and treatment can improve symptoms. It also can reduce the chance of getting more serious health conditions. For example, if you are diagnosed and treated before you get cirrhosis or diabetes, your life expectancy should be normal.
Other things you can do to improve reduce symptoms, include:
- Don’t take iron supplements. Don’t take the vitamins with iron in them.
- Don’t take vitamin C supplements.
- Eat less red meat.
- Reduce your alcohol.
- Don’t eat raw shellfish. Don’t touch raw shellfish. It can cause a bacterial infection.
Hereditary hemochromatosis treatment
Treatment involves reducing your iron levels. Usually, this is done by removing blood from your body (called phlebotomy, inserting a needle into a vein to remove extra red blood cells from the blood) on a regular basis. It’s just like donating blood. Your doctor will tell you how often you need to have it done. Usually, it’s once or twice a week until your iron levels return to normal.
Living with hereditary hemochromatosis
If you have hereditary hemochromatosis, you might need further tests to check for other conditions. For example, you may have to have a liver biopsy to see if your liver is damaged. This involves a doctor removing a small piece of your liver and looking at it under a microscope. If you have cirrhosis, you have a higher risk for getting liver cancer. If the cirrhosis is serious, it may require a liver transplant.
Questions to ask your doctor
- Can I pass it onto my children?
- What are the physical risks of genetic testing?
- Can medicine lower your iron level?
- Which foods are high in iron?
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This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.