Haemochromatosis Iron is an essential mineral and is a key component of haemoglobin, the oxygen-carrying protein found in red blood cells. Too little iron can lead to anaemia (a lack of healthy red blood cells); however, too much can be toxic. Haemochromatosis is an inherited condition characterised by iron overload. People with haemochromatosis continue to absorb iron from the food they eat despite gradually increasing iron stores. Over time, iron begins to accumulate in organs and tissues throughout the body, including the liver, heart, joints, hormone-producing glands and skin. As the disease advances, complications such as liver disease, arthritis, diabetes and heart disease can develop. However, if haemochromatosis is diagnosed and treated early, such complications can be prevented. Treatment simply requires regular blood donation to reduce iron stores and once normalised, regular monitoring for iron build-up. Haemochromatosis rarely causes symptoms during the early stages of iron overload; therefore, the condition can remain undiagnosed for many years. Additionally, symptoms can be vague and non-specific. Signs and symptoms can include: - Fatigue, weakness, low energy - Joint pain - Bronzing of the skin - Abdominal pain or discomfort - Fertility issues - Erectile dysfunction Genetic haemochromatosis is the most common genetic condition in people of European descent and over 95% of people with the condition have mutations in the HE gene. A person must inherit two copies of the defective gene to be at risk of developing iron overload. Iron overload does not develop in individuals who inherit only one defective copy of the gene; instead, these people are carriers and can pass the defective gene on to their children. As many as 1 in 10 people in the UK and Ireland carry a defective copy of the HFE gene. Often described as the "Celtic Curse" genetic haemochromatosis is particularly prevalent among Irish, Scottish and Welsh people. Genetic testing for mutations within the HE gene can confirm the diagnosis of genetic haemochromatosis in people with evidence of iron overload. Once diagnosed, screening of family members is recommended to identify those who may be at risk of developing iron overload. PLEASE NOTICE: You are required to fast 10 hours before your scheduled appointment. You may drink water as normal.
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