Hemochromatosis is a disorder in which the body stores too much iron. Iron is an important nutrient that helps the hemoglobin in blood cells carry oxygen to your body's organs and tissues. Your intestines absorb the iron your body needs from the food you eat. The amount it absorbs is finely calibrated to replace the small amount of iron lost each day.
If you have hemochromatosis, your body absorbs more iron than it uses. The body has no way to remove the extra iron, so it stores it in the joints and organs — especially the liver, heart, and pancreas. The organs cannot manage the overload of iron, and so they can be damaged and may eventually fail.
In the early stages, hemochromatosis may not have any noticeable symptoms. When symptoms do appear, the most common is chronic fatigue (feeling very tired) and joint pain. Some people with hemochromatosis have pain in their knuckles. This is called the "iron fist," and it can be a clue that a person has the disease. Other symptoms of hemochromatosis include:
What causes hemochromatosis:
Iron overload (hemochromatosis) can be caused by disorders such as thalassemia (an inherited blood disorder), anemia, chronic alcoholism, and other conditions. In many cases, however, iron overload is the result of a hereditary disorder, which means it is passed down from parents to children through their genes. This form of iron overload is called hereditary hemochromatosis. Hereditary hemochromatosis is also known as primary hemochromatosis. Most cases of hereditary hemochromatosis in the United States are caused by a defect in a gene called the HFE gene.
Some people get a copy of the HFE gene defect from just one parent. They are called "carriers" because they carry the defective gene and can pass it on to their children. Carriers usually do not get sick. People who get the HFE gene defect from both parents have a greater chance of developing iron overload.
There are other types of hereditary hemochromatosis that are not caused by the HFE gene defect — including, juvenile, and neonatal hemochromatosis — but they are less common.
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 a screening of family members of people diagnosed with the disease.
In addition to therapeutic blood removal, you may further reduce your risk of complications from hemochromatosis if you: