What is iron overload disorder? What is hemochromatosis? What causes iron overload disorder? Hemochromatosis, or iron overload disorder, is a disorder which makes the body absorb excessive amounts of iron from the food and drink we consume. The iron overload gives the skin a bronze color, as well as damaging the liver and other organs. Commonly, if it is allowed to progress, the pancreas becomes damaged and the patient develops diabetes. The surplus iron is stored in the liver, heart, pancreas and other organs. Other life- threatening conditions caused by hereditary hemochromatosis are cancer and heart disease. As women regularly lose blood during menstruation, hemochromatosis is less common among females than males. Blood loss means iron loss. Iron overload disorder can be either. Passed on genetically; this is known as primary hemochromatosis, hereditary hemochromatosis, or classic hemochromatosis. The result of some condition, such as chronic liver disease, that causes the body to absorb excessive amounts of iron. This is known as secondary hemochromatosis. Patients diagnosed with hemochromatosis are told to avoid iron- rich foods, such as red meat, as well as vitamin- C- rich foods - vitamin C allows the body to absorb more iron. For example, smoking raises the risk of developing lung cancer; therefore, smoking is a risk factor for lung cancer. The known risk factors for hemochromatosis are. Possessing two copies of a mutated HFE gene - the greatest risk factor for hereditary hemochromatosis. The person inherits one copy of the mutated HFE gene from each parent. Family history - anybody who has a close relative (parent, offspring, brother or sister) with hemochromatosis is significantly more likely to develop it compared to other people. Ancestry - people of British, Scandinavian Dutch, German, Irish and French ancestry have a higher risk of developing hemochromatosis compared to others. Their risk of having the HFE gene mutation is greater. Gender - men are significantly more likely to develop hemochromatosis compared to women. Signs and symptoms tend to appear earlier on in life in males than females. Cirrhosis Description. An in-depth report on the causes, diagnosis, treatment, and prevention of cirrhosis. Cirrhosis is a liver. Despite advances in the molecular understanding of hemochromatosis and the impact of C282Y on diagnosis, treatment remains simple, inexpensive, and safe. This is because women lose iron during menstruation and pregnancy. A woman's risk increases after the menopause or a hysterectomy. The male- to- female ratio is 1. Choosing Wisely: More Good Clinical Recommendations to Improve Health Care Quality and Reduce Harm. Juvenile hemochromatosis is a rare genetic disorder characterized by the accumulation of iron in various organs of the body. The best possible care starts with finding an experienced doctor who can treat you at a top-rated hospital. But it’s also important to be an informed patient, so. What are the causes of hemochromatosis? When we have sufficient stores of iron the body reduces the amount of iron absorbed by the intestine to prevent levels from going too high. People with hereditary hemochromatosis may absorb up to 3. With this rate of intake the body cannot get rid of the excessive iron fast enough, so it builds up. The body stores the excess in the tissues of our major organs, mainly in the liver, as well as the heart and pancreas. Over time the excess iron can destroy several organs, resulting in organ failure and chronic diseases, such as cirrhosis, heart disease and diabetes. Genes are a set of instructions that decide what the organism is like, how it survives, and how it behaves in its environment. A mutation in one gene can significantly change the way our body works. HFE is the gene that controls the amount of iron we absorb (H = high, FE means iron). There are two common mutations in the HFE gene - C2. Y and H6. 3D. In the USA, for example, most people with inherited hemochromatosis have inherited two C2. Y copies - one from the mother and the other from the father. If you have inherited just one gene with the C2. Y mutation you are not likely to develop iron overload syndrome, although you will probably absorb more iron than normal. However, you will be a carrier. Approximately 1. 0% of all Caucasians carry one hemochromatosis gene. If both your parents are carriers you have a 1 in 4 chance of inheriting two mutated genes - one from each parent. However, some people with two copies of the C2. H2. Y mutation never experience symptoms. Some individuals may inherit one C2. Y and one H6. 3D mutation. A small proportion of these people will develop hemochromatosis symptoms. Inheriting two copies of H6. D is very rare, but it does happen. Some say people with two copies of the H6. D mutation are at risk of developing hemochromatosis, while others disagree. Secondary hemochromatosis. This type of hemochromatosis occurs as a result of another condition or circumstance (the patient does not have C2. Y or H6. 3D mutations). Examples include: A blood disorder, such as thalassemia. Chronic liver disease, such as chronic hepatitis C infection, alcoholic liver disease, or non- alcoholic steatohepatitis. Some types of anemia which require blood transfusion. Rare inherited diseases that affect red blood cells, including atransferrinemia or aceruloplasminaemia. Drinking beer that has been brewed in iron containers (African iron overload). Oral iron pills or iron injections, with or without very high vitamin C intake. Long- term kidney dialysis. The patient may develop diabetes and have problems with sexual development. Left untreated juvenile hemochromatosis can be fatal. Juvenile hemochromatosis is an inherited disease caused by a mutation in a gene called hemojuvelin (the HFE gene is not involved). Neonatal hemochromatosis. Iron accumulates in the infant's liver so fast that he/she is either stillborn or dies not long after birth. Experts are not sure what the causes of neonatal hemochromatosis are. What are the signs and symptoms of hemochromatosis? For example, a headache may be a symptom while a rash may be a sign. As signs and symptoms may be mild and could also be indications of other illnesses and conditions, identifying hemochromatosis is often not straightforward. The main symptoms include: Abdominal pain. Females may stop menstruating. High blood sugar levels. Hypothyroidism (low thyroid function) Loss of libido (sex drive) and male impotence. Pain in the joints. Reduction in size of testicles. Skin becomes bronzed (has a tanned look) Tiredness (fatigue) Weakness. Weight loss. As the disorder progresses, the following conditions may develop: How is hemochromatosis diagnosed? Some GPs (general practitioners, primary care physicians) may not have come across it before. Depending on symptoms, a GP will refer the patient to a hepatologist (a liver specialist doctor) or cardiologist (heart specialist doctor). A specialist will be able to diagnose hemochromatosis. Serum transferring saturation - transferrin is a protein that carries iron in the blood. This test measures the amount of iron bound to transferrin. Saturation values over 4. Serum ferritin - this blood test measures the amount of iron the body has stored. If serum transferrin levels are too high the doctor will measure serum ferritin levels. In order to diagnose hemochromatosis both tests are needed - sometimes they need to be repeated for better accuracy. This is because several other diseases and conditions can raise ferritin levels. These two blood tests are not usually performed routinely. People who have a parent, child or sibling with hemochromatosis are advised to have these tests, as are people with any of the following signs and symptoms. Diabetes. Elevated liver enzymes. Erectile dysfunction (male impotence)Extreme tiredness. Heart disease. Joint disease/li> People who abuse alcohol, have had many blood transfusions, or have had hepatitis C may have blood tests that suggest iron overload. To confirm a diagnosis of hereditary hemochromatosis, the following additional tests may be ordered: Genetic testing - the test will determine whether the patient carries the HFE gene. Liver biopsy - the doctor removes a sample of liver tissue with a needle. It is sent to the laboratory to determine what the levels of iron are, whether there is any scarring, cirrhosis or other liver damage. Venesection (phlebotomy) - iron- rich blood is removed from the body regularly, just as if the patient were donating blood. In this case the aim is to bring iron levels down to normal. How much blood is taken and how often depends on the patient's age, overall health and the severity of the iron overload. In most cases blood is removed weekly until levels are back to normal. When iron levels build up again the patient will need venesection treatment again. Although venesection cannot reverse the symptoms of cirrhosis, it can improve symptoms such as nausea, abdominal pain and fatigue. Medication - the patient may be given a drug that binds iron, which is then excreted from the body. Liver cancer - individuals with both cirrhosis and hemochromatosis have a significantly higher risk of developing liver cancer compared to others. Diabetes - diabetes can lead to serious complications, such as kidney failure, blindness, and heart problems. Congestive heart failure - if too much iron builds up in the heart the body may fail to circulate enough blood to meet its needs. Congestive heart failure is a life- threatening disease if left untreated. Irregular heart rhythms (arrhythmias) - the patient may experience chest pain, palpitations and dizziness. Skin color - the individual's skin can take on a bronze or gray color because of the deposits of iron in skin cells. Written by Christian Nordqvist.
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