hemochromatosis

hemochromatosis
—hemochromatotic /hee'moh kroh'meuh tot"ik, hem'oh-/, adj.
/hee'meuh kroh'meuh toh"sis, hem'euh-/, n. Pathol.
a rare metabolic disorder characterized by a bronzed skin, cirrhosis, and severe diabetes, caused by the deposit in tissue, esp. of the liver and pancreas, of hemosiderin and other pigments containing iron. Also called bronze diabetes.
[1895-1900; HEMO- + CHROMAT- + -OSIS]

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also spelled  haemochromatosis , also called  iron storage disease , or  bronze diabetes 

      inborn metabolic defect (metabolic disease) characterized by an increased absorption of iron, which accumulates in body tissues. The clinical manifestations include skin pigmentation, diabetes mellitus, enlargement of the spleen and liver, cirrhosis, heart failure, arthritis, and general weakness and lassitude.

      There are four types of hemochromatosis. Type 1 is characterized by the appearance of symptoms in men between the ages of 40 and 60 and in women after menopause (when iron is no longer lost through menstruation and pregnancy). Type 2, also called juvenile hemochromatosis, is divided into types 2A and 2B based on different genetic mutations (mutation) and is characterized by the onset of symptoms in childhood that often lead to delayed puberty or sex hormone deficiencies. Type 3 is characterized by the onset of symptoms in adults between the ages of 20 and 30, and type 4, sometimes called ferroportin disease, is characterized by the onset of symptoms in adults around the age of 40. Types 1, 2, and 3 are autosomal recessive diseases, meaning that two copies of the mutated gene, one inherited from each parent, are required to cause disease. In contrast, type 4 is autosomal dominant, meaning that only one copy of the mutated gene is required to cause disease. Type 1 is the most common form, and nearly all individuals with type 1 hemochromatosis are of northern European descent. In fact, an estimated 1 in 8 to 1 in 12 people of this descent carry genetic mutations associated with type 1 hemochromatosis. Because of the high incidence of this defect, genetic testing is often performed in affected families to determine whether an individual is a carrier.

      Mutations that cause hemochromatosis can occur in several different genes. Type 1 is caused by mutation in a gene designated HFE (hemochromatosis), which codes for hemochromatosis protein. This protein is involved in regulating the absorption of iron in the body. The interaction of hemochromatosis protein with other iron-regulating substances appears to moderate the levels of a protein called ferritin, which stores iron and is found in cells of the liver, spleen, and intestinal mucosa. Mutation in HFE leads to excess absorption of iron and to excess levels of ferritin. As a result, iron slowly accumulates in the tissues of the body.

      Diagnosis of hemochromatosis is based on genetic testing, blood and serum testing, and liver biopsy. Treatment consists of phlebotomy (the removal of blood) at regular intervals to decrease the concentration of ferritin in the body. Phlebotomy may be performed once or twice a week in the initial stages of treatment; however, when ferritin levels return to normal, most patients require maintenance phlebotomy only once every one to four months.

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Universalium. 2010.

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Look at other dictionaries:

  • hemochromatosis — [hē΄mə krō΄mə tō′sis, hem΄əkrō΄mə tō′sis] n. [ HEMO + CHROMAT(O) + OSIS] a disorder of iron metabolism, characterized by a bronze colored skin pigmentation, liver dysfunction, an excess of iron in body organs, and diabetes mellitus …   English World dictionary

  • hemochromatosis — noun pathology in which iron accumulates in the tissues; characterized by bronzed skin and enlarged liver and diabetes mellitus and abnormalities of the pancreas and the joints • Syn: ↑iron storage disease, ↑iron overload, ↑bronzed diabetes •… …   Useful english dictionary

  • Hemochromatosis — An inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas. * * * A disorder of iron… …   Medical dictionary

  • hemochromatosis — A condition in which the body absorbs more iron from food than it needs. The extra iron is stored in and may damage the liver, heart, and pancreas. It may cause organ failure, cancer, heart problems, and liver disease. Hemochromatosis may also… …   English dictionary of cancer terms

  • hemochromatosis [hereditary] — hemochromatosis [hereditary]. См. гемохроматоз [наследственный]. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • hemochromatosis — noun Etymology: New Latin, from hem + chromat + osis Date: 1899 a hereditary disorder of metabolism involving the deposition of iron containing pigments in the tissues that is characterized especially by joint or abdominal pain, weakness, and… …   New Collegiate Dictionary

  • hemochromatosis — noun /ˌhiːməʊkɹəʊməˈtəʊsɪs/ a metabolic disorder causing iron deposits in the body, also called bronze diabetes …   Wiktionary

  • hemochromatosis — n. (Medicine) genetic disorder in which the body absorbs too much iron and stores it in the bodily organs (can cause organ damage, diabetes, and skin discoloration) …   English contemporary dictionary

  • hemochromatosis — he·mo·chromatosis …   English syllables

  • hemochromatosis — he•mo•chro•ma•to•sis [[t]ˌhi məˌkroʊ məˈtoʊ sɪs[/t]] n. pat a disorder of iron metabolism manifested by bronzed skin due to excessive iron absorption, leading to joint pain, diabetes, and liver damage if iron concentration is not reduced •… …   From formal English to slang

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