OverviewHereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) 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. Show 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. Treatment includes regularly removing blood from your body. Because much of the body's iron is contained in red blood cells, this treatment lowers iron levels. SymptomsSome people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions. Signs and symptoms may include:
When signs and symptoms typically appearHereditary 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 doctorSee 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. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. CausesHereditary 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 hemochromatosisA 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.
How hemochromatosis affects your organsIron plays an essential role in several body functions, including helping in the formation of blood. But too much iron is toxic. A hormone called hepcidin, secreted by the liver, normally controls how iron is used and absorbed in the body, as well as how excess iron is stored in various organs. In hemochromatosis, the normal role of hepcidin is disrupted, causing your body to absorb more iron than it needs. This excess iron is stored in major organs, especially your liver. Over a period of years, the stored iron can cause severe damage that may lead to organ failure and chronic diseases, such as cirrhosis, diabetes and heart failure. Though many people have faulty genes that cause hemochromatosis, not everyone develops iron overload to a degree that causes tissue and organ damage. Hereditary hemochromatosis isn't the only type of hemochromatosis. Other types include:
Risk factorsFactors that increase your risk of hereditary hemochromatosis include:
ComplicationsUntreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored — your liver, pancreas and heart. Complications can include:
Dec. 30, 2020 |