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" What is haemochromatosis? Haemochromatosis is a disease caused by excess iron in the body.  Iron is needed in the diet to maintain good health, particularly for making red blood cells that carry oxygen around the body.  These red blood cells contain large amounts of iron.  Lack of iron can cause anaemia, but excessive iron is toxic.  The body has very few effective means of disposing of unwanted iron, so it is important that the body limits the amount of iron absorbed from the diet in order to prevent excessive build-up of iron (Fe) in the tissues causing damage and disease. What causes haemochromatosis? Iron overload may be caused by increased absorption of iron from the intestine, even when the body does not require it. This is called primary iron overload.  This is usually caused by an inherited abnormality known as hereditary haemochromatosis. Are there any other causes? This article provides details on hereditary haemochromatosis related to mutations in the HFE gene, but excess body iron may also be caused by large number of other non-HFE gene mutations (eg mutations in the haemojuvelin, transferrin receptor 2, ferroportin and hepcidin genes).  In addition iron overload can result from secondary iron overload caused by:  iron loading anaemias \u2013 thalassaemia major, sideroblastic anaemia, haemolytic anaemia, aplastic anaemia parenteral iron overload caused by red cell transfusions chronic liver disease \u2013 Porphyria cutanea tarda, alcoholic liver disease  dysmetabolic iron overload syndrome   Why or how do I get haemochromatosis? Primary haemochromatosis is an inherited disease.  It is thought to be mainly caused by a mutation of a gene called HFE, which probably allows excess iron to be absorbed from the diet.  This mutation is known as C282Y and to develop haemochromatosis you usually need two genes (one from each parent) to be C282Y.  However, not everyone with the mutation may develop the disease, and it may occur if only one C282Y gene is present.  However in this situation, there is a usually an additional mutation of the HFE gene caused H63D.  Confusingly, another mutation labelled H63D elsewhere on the HFE gene may occur alone or with C282Y and also influence iron levels.  The H63D mutation is very common (approximately 20 to 30 per cent of white Caucasians will carry an abnormal H63D mutation).  Other rare mutations may give rise to haemochromatosis, especially in children. Who is at risk? Haemochromatosis is more common in Caucasian or white populations, with about 1 in 300 to 1 in 400 affected. About half that number are affected in black populations. Men are more likely to have hereditary haemochromatosis and suffer from it at an earlier age, as women regularly lose iron in menstruation or use stores in pregnancy. How does the disease develop? The onset of hereditary haemochromatosis usually occurs between the ages of 30 and 60 as the build up of iron takes years.  However, a rapid form of the disease does affect children.  If left untreated excess iron builds up in the organs especially the liver, heart and pancreas. This may cause heart or liver failure, which can be fatal.  What are the symptoms of haemochromatosis? More and more people are being diagnosed with hereditary haemochromatosis without showing any symptoms.  Symptoms can be difficult to spot because they&amp;#039;re often mild initially, with many potential causes.  Fatigue and lethargy are common, and joint pain or arthritis may occur.  Sexual problems, particularly impotence in men or loss of menstruation in women, may be an important early sign. As the iron overload increases, sufferers may experience the following diseases. Liver disease  The liver is the main site of excessive iron build up. The disease causes scarring or liver fibrosis leading to cirrhosis.  Symptoms include abdominal pain, jaundice, swelling of the ankles or abdomen and enlargement of the liver or spleen.  In severe cases bleeding from the gut or coma can occur. Heart disease  Excess iron deposits may lead to one of two heart conditions.  These are heart failure (indicated by tiredness, lack of energy, shortness of breath and ankle swelling) and abnormal heart rhythms.  Patients may experience extra heart beats known as ectopics or disorders where the heart goes either too fast (tachycardia) or too slow (bradycardia). Pancreatic disease  Sugar diabetes (diabetes mellitus) may be an early sign of haemochromatosis and develops in up to half of all patients with advanced disease.  Diabetes is due to excess iron in the pancreas gland damaging the insulin producing cells.  This complication together with the dark skin pigmentation that can occur has led to haemochromatosis sometimes being called &amp;#039;bronze diabetes&amp;#039;. Other rare symptoms  Endocrine gland problems particularly with pituitary, thyroid or sex hormones can occur, as can skin and neurological disease. How is haemochromatosis diagnosed? A hospital specialist in liver or heart disease is more likely to spot haemochromatosis, as most GPs are unfamiliar with the disease.  Initially blood tests for iron levels are carried out. However a simple blood test for the HFE gene is now routinely available.  This simple test identifies the vast majority of haemochromatosis cases.  Patients with symptoms often have a liver biopsy to assess liver damage and confirm the presence of excess iron.  Screening of relatives of patients with hereditary haemochromatosis is usually recommended now using the HFE gene blood test  Good advice  Limit the amount of iron in your diet. Eating red or organ meats (such as liver) is not recommended. Iron supplements should also be avoided, including iron combined with other multivitamins. Vitamin C increases iron absorption from the gut and intake should also be limited. Avoid excess alcohol as this may make liver disease worse.   What treatment is available? The main treatment for haemochromatosis is regular bloodletting known as therapeutic venesection. One unit of blood (approximately 500ml) is taken at a time in a similar way to blood donation but much more frequently.  Initially blood and the iron in the red blood cells may be removed weekly until body iron stores return to normal. This may take months or longer. Treatment may be lifelong. Future prospects Your prospects largely depend on the stage at which the disease was diagnosed. Symptoms of tiredness and general weakness often improve, but joint problems may not.  Abdominal pain and liver enlargement can also lessen or disappear, and heart function may also improve with treatment.  However, liver cirrhosis is irreversible and a liver transplant may be required.  Patients with liver disease are also usually monitored for liver cancer, which can be a long-term complication. Other people also read: Blood tests: how is a blood test carried out? X-rays: what happens during an X-ray test? Iron deficiency: what are the symptoms of iron-deficiency anaemia? Last updated 29.09.2014 "^^<http://www.w3.org/2001/XMLSchema#string>
<http://www.netdoctor.co.uk/conditions/heart-and-blood/a1152/haemochromatosis/>