Hereditay hemochromatosis. Rev Col Gastroenterol [online]. ISSN Hereditary hemochromatosis is a disorder related to iron metabolism. It is common in European populations, but it is frequently misdiagnosed with other diseases such as alcoholic liver disease and several arthropaties. Transmission has an autosomic, recessive pattern that produces iron overload, and is genetically located in chromosome 6, due to a mutation of the HFE gene.

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Rev Col Gastroenterol [online]. ISSN Hemochromatosis includes a variety of chronic syndromes of genetic origin with iron overload, which can be classified according to genetic mutations in four groups, from type 1 to type 4. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene HFE generates an increased absorption and severe iron overload. The American study showed that a multi-ethnic population of every white people is homozygous for the CY HFE gene mutation, implicated in hemochromatosis type 1.

The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most common mutation is CY. Keywords : Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Article. English pdf Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

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Prueba genética para la hemocromatosis (prueba de HFE)

For the best experience on htmlWebpackPlugin. Esta prueba ayuda a averiguar si tiene hemocromatosis. La muestra de sangre se toma de una vena del brazo. Es posible que la sienta apretada. Los resultados normales se llaman negativos.


Hemocromatosis hereditaria

Griffiths W, Cox T. Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. Hum Mol Genet ; 9: Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem ; Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis ;


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Por ejemplo, en Grecia no se encuentra ni en 1 de cada En general se trata de sobrecargas moderadas y de baja penetrancia A esta forma de hemocromatosis se la ha denominado hemocromatosis juvenil HJ o hemocromatosis hereditaria del tipo II. El mecanismo por el que ejerce esos efectos es desconocido.

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