2012
DOI: 10.1111/j.1365-2036.2012.05051.x
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Review article: the iron overload syndromes

Abstract: Summary Background Iron overload syndromes encompass a wide range of hereditary and acquired conditions. Major developments in the field of genetics and the discovery of hepcidin as a central regulator of iron homeostasis have greatly increased our understanding of the pathophysiology of iron overload syndromes. Aim To review advances in iron regulation and iron overload syndrome with special emphasis on hereditary haemochromatosis, the prototype iron overload syndrome. Methods A PubMed search using words such… Show more

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Cited by 125 publications
(137 citation statements)
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“…However, there are a number of diseases, so called ''iron overload disease'' related to increase in total body iron stores. Iron overload can be classified as primary or secondary depending whether it results from a primary defect in the regulation of iron balance or is secondary to other genetic or acquired disorders (see Piperno 1998;Fleming and Ponka 2012;Siddique and Kowdley 2012). The presence of iron in iron storage proteins permits to apply Mössbauer spectroscopy for analysis of the iron content and state in these proteins and tissues containing ferritin (see, for instance, St.…”
Section: Introductionmentioning
confidence: 99%
“…However, there are a number of diseases, so called ''iron overload disease'' related to increase in total body iron stores. Iron overload can be classified as primary or secondary depending whether it results from a primary defect in the regulation of iron balance or is secondary to other genetic or acquired disorders (see Piperno 1998;Fleming and Ponka 2012;Siddique and Kowdley 2012). The presence of iron in iron storage proteins permits to apply Mössbauer spectroscopy for analysis of the iron content and state in these proteins and tissues containing ferritin (see, for instance, St.…”
Section: Introductionmentioning
confidence: 99%
“…The diagnosis requires exclusion of viral, autoimmune hepatitis and biliary obstruction; negativity of serologic and autoimmune markers. Hemochromatosis is an abnormal accumulation of iron in parenchymal organs of the body that leads, if not treated to organ dysfunction [4,5]. Iron overload syndromes are divided into two main groups (Tables 1 and 2).…”
Section: Discussionmentioning
confidence: 99%
“…Em 1889, Von Recklinghausen, patologista alemão, usou o termo "hemocromatose" após descobrir que os pacientes tinham uma pigmentação nas células do fígado provocada pelo ferro. Sheldon (1935, apud SIDDIQUE;KOWDLEY, 2012) tornou claro que a doença era hereditária e causada por excesso de depósitos de ferro nos tecidos e a associou com desordens do metabolismo do ferro (PIETRANGELO, 2004;SIDDIQUE;KOWDLEY, 2012). Com o decorrer dos estudos, Simon et al (1976) deiniram a incidência e transmissão genética da doença que parecia estar ligada ao complexo HLA e mapeado próximo ao lócus do HLA-A.…”
Section: Hemocromatoseunclassified
“…Com o decorrer dos estudos, Simon et al (1976) deiniram a incidência e transmissão genética da doença que parecia estar ligada ao complexo HLA e mapeado próximo ao lócus do HLA-A. Foi então em 1996, que Feder identiicou o gene da HFE, para a mutação (C282Y) que estava presente na maioria dos pacientes com HH (PIETRANGELO, 2004;SIDDIQUE;KOWDLEY, 2012). Esta alteração hereditária no gene da HH leva ao acúmulo progressivo do ferro nas células parenquimatosas do fígado, pâncreas e coração (VILLANI et al, 2010).…”
Section: Hemocromatoseunclassified
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