Hemochromatosis causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.
The genes that cause hemochromatosis are inherited, but only a minority of people who have the genes ever develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in midlife.
Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions.
Signs and symptoms may include:
- Joint pain
- Abdominal pain
- Loss of sex drive
- Heart failure
- Liver failure
- Bronze or gray skin color
- Memory fog
When signs and symptoms typically appear
Hereditary hemochromatosis is present at birth. But most people don’t experience signs and symptoms until later in life — usually after the age of 40 in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.
When to see a doctor
See your doctor if you experience any of the signs and symptoms of hereditary hemochromatosis. If you have an immediate family member who has hemochromatosis, ask your doctor about genetic tests that can determine if you have inherited the gene that increases your risk of hemochromatosis.
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. These mutations are passed from parents to children. This type of hemochromatosis is by far the most common type.
Gene mutations that cause hemochromatosis
A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
- If you inherit 2 abnormal genes, you may develop hemochromatosis. You can also pass the mutation on to your children. But not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.
- If you inherit 1 abnormal gene, you’re unlikely to develop hemochromatosis. However, you are considered a gene mutation carrier and can pass the mutation on to your children. But your children wouldn’t develop the disease unless they also inherited another abnormal gene from the other parent.
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