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Haemochromatosis - causes, symptoms & treatment
Haemochromatosis is a genetic disease in which the body stores too much iron. Find out more about symptoms, diagnosis and treatment options such as phlebotomy.
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Haemochromatosis is a hereditary disease in which the body absorbs too much iron from food and stores this excess iron in various organs.
Over time, iron accumulation can lead to serious damage to organs such as the liver, heart, pancreas and joints. This iron overload, if left untreated, can cause serious conditions such as cirrhosis of the liver, heart problems, diabetes and joint damage.
Haemochromatosis is mostly genetic and occurs in its primary form due to a mutation in the HFE gene, with the most common mutation being C282Y. This form of the disease is inherited and people with this mutation absorb excessive amounts of iron from their diet. There is also a secondary form of haemochromatosis, which is caused by other factors such as regular blood transfusions or certain blood disorders.
The symptoms of haemochromatosis often develop gradually and usually only appear in adulthood. Early signs include fatigue, weakness, joint pain, abdominal pain, reduced sex drive and abnormally bronze-coloured skin. As the disease progresses, more serious symptoms such as liver cirrhosis, diabetes, heart failure and hormonal imbalances can occur.
Haemochromatosis is diagnosed through blood tests that measure ferritin levels and transferrin saturation to determine the amount of iron in the body. Genetic tests can confirm the HFE gene mutation. Treatment usually consists of regular phlebotomies to remove excess iron from the body. The loss of blood forces the body to use the stored iron to make new red blood cells. Early diagnosis and treatment are crucial to prevent permanent damage to the organs.
In addition to medical treatment, people with haemochromatosis are often advised to follow a low-iron diet and avoid alcohol and vitamin C supplements, as these can further increase iron absorption. Lifelong monitoring of iron levels is necessary to prevent relapses and ensure long-term health.
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