Hereditary haemochromatosis

Hereditary haemochromatosis 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 liver disease, heart problems, and diabetes.

Causes

Hereditary haemochromatosis 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 haemochromatosis usually begin in mid-adulthood. Symptoms can vary widely from person to person, and some people may have no symptoms at all. Common symptoms include fatigue, joint pain, abdominal pain, and loss of libido. More severe symptoms can include arthritis, liver disease, diabetes, heart failure, and skin discoloration.

Diagnosis

Hereditary haemochromatosis is diagnosed through a combination of blood tests, genetic testing, and liver biopsy. Blood tests can reveal high levels of iron in the blood, while genetic testing can identify mutations in the HFE gene. A liver biopsy can confirm the diagnosis and determine the severity of the disease.

Treatment

The primary treatment for hereditary haemochromatosis is a procedure called phlebotomy, in which blood is drawn from the body to reduce the amount of iron. Other treatments may include dietary changes, iron chelation therapy, and medication to manage symptoms.

See also

• Iron overload
• HFE hereditary haemochromatosis
• Iron metabolism

References

Hereditary haemochromatosis Resources
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