Hereditary 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.
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.
Source: http://www.mayoclinic.com
Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions. Common symptoms include:
Later signs and symptoms of the disease may include:
Hereditary hemochromatosis is present at birth. But, most people don't experience signs and symptoms until later in life â usually between the ages of 50 and 60 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.
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.
Source: http://www.mayoclinic.com
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.
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.
Iron 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 that 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, only about 10 percent of them develop iron overload to a degree that causes tissue and organ damage.
Hereditary hemochromatosis isn't the only type of hemochromatosis. Other types include:
Source: http://www.mayoclinic.com
Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.
Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.
The two key tests to detect iron overload are:
Because a number of other conditions can also cause elevated ferritin, both blood tests are typically abnormal among people with this disorder and are best performed after you have been fasting. Elevations in one or all of these blood tests for iron can be found in other disorders. You may need to have the tests repeated for the most accurate results.
People with abnormal iron tests should undergo genetic testing to confirm the diagnosis. Most people will have two gene mutations.
Your doctor may suggest other tests to confirm the diagnosis and to look for other problems:
Genetic testing is recommended for all first-degree relatives â parents, siblings and children â of anyone diagnosed with hemochromatosis. If a mutation is found in only one parent, then children do not need to be tested.
Source: http://www.mayoclinic.com
Untreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored â your liver, pancreas and heart. Complications can include:
Source: http://www.mayoclinic.com
In addition to therapeutic blood removal, you may further reduce your risk of complications from hemochromatosis if you:
Additional dietary changes generally aren't required for people receiving blood removal treatment.
Source: http://www.mayoclinic.com
Factors that increase your risk of hereditary hemochromatosis include:
Source: http://www.mayoclinic.com
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