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Hereditary Hemochromatosis Essay

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Hereditary hemochromatosis also known as HH and classic hereditary hemochromatosis is an inherited disorder that absorbs an abundant amount of iron in the body. The increased intake causes damage to the organs, which leads to many symptoms. Mutations of the HFE gene cause hereditary hemochromatosis, which is inherited as an autosomal recessive trait on chromosome 6–where the HFE gene is located. The mutations create an abnormal function that leads to a substation of the 282nd amino acid, making cysteine into tyrosine; which affects HFE’s protein interaction with transferrin receptor. Causing the body to increase the amount of iron absorbed. The normal function of the HFE gene is to interact with transferrin receptors to maintain iron homeostasis. The autosomal recessive trait only turns into a disease, if an individual inherits the same abnormal gene for the same trait from each parent. If the individual receives one normal gene and one disease gene, then the individual …show more content…

Phlebotomy might be done for about two year, once or twice a week. The procedure is safe and simple and will help initially stabilize levels of ferritin and transferrin in the blood. There are some cases where “phlebotomy can’t be conducted due to anemia, cardiac disease or advanced cirrhosis”, so deferoxamine may be prescribed. “The drug deferoxamine binds itself to iron in the body allowing it to dissolve in water and excrete”. In conclusion hereditary hemochromatosis is a common disorder and can result in many diseases, however only a low number of people see any symptoms. The majority of people that develop hereditary hemochromatosis are Caucasian because of genetic factors, though other races can develop it too. The best way to treat hereditary hemochromatosis is as early as possible before the increased amount of iron can infect the

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