Hereditary hemochromatosis

Hereditary hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Over time, the high levels of iron can lead to life-threatening conditions such as heart disease, liver disease, diabetes, and arthritis.

Causes

Hereditary hemochromatosis is caused by mutations in the HFE gene. This gene provides instructions for producing a protein that is involved in the regulation of iron absorption from the diet. Mutations in the HFE gene disrupt the function of this protein, causing the body to absorb more iron than it needs.

Symptoms

The symptoms of hereditary hemochromatosis can vary widely from person to person. Some people may not experience any symptoms, while others may have severe symptoms. Common symptoms include fatigue, weakness, weight loss, joint pain, and abdominal pain. More severe symptoms can include heart problems, liver problems, diabetes, and arthritis.

Diagnosis

Hereditary hemochromatosis is diagnosed through a combination of physical examination, medical history, and laboratory tests. These tests may include blood tests to measure the amount of iron in the body, genetic testing to identify mutations in the HFE gene, and liver biopsy to assess the amount of iron in the liver.

Treatment

The treatment for hereditary hemochromatosis involves reducing the amount of iron in the body. This is usually achieved through a procedure called phlebotomy, in which blood is removed from the body on a regular basis. In some cases, medication may be used to help remove iron from the body.

See also

• Iron overload
• Hemochromatosis
• Genetic disorders
• HFE gene

Hereditary hemochromatosis Resources
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