HEMOCROMATOSIS HEREDITARIA PDF

Hemocromatosis hereditaria. Powell L.W., Isselbacher omatosis Pardo A., Salido E., Quintero omatosis hereditaria: implicaciones. Abstract. TAPIAS M, Mónica and IDROVO C, Victor. Hereditay hemochromatosis. Rev Col Gastroenterol [online]. , vol, n.4, pp ISSN Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura. Rev Col Gastroenterol [online]. , vol, n.2, pp ISSN

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Introduction The prevalence of CY homozygosity in patients with hereditary hemochromatosis HH has been reported to be markedly lower in the Mediterranean Basin than in northern Europe. In Spain, the available data are hemocromatossi and limited to small series in specific regions.

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. How to cite this article. Rev Col Gastroenterol [online]. SRJ is a prestige metric based on the idea that not all citations are the same.

Hemocromatosis – Síntomas y causas – Mayo Clinic

Hereditary hemochromatosis is a disorder related to iron metabolism. Scand J Hemocromatosid, 36pp. Autosomal-dominant hemochromatosis is associated with bereditaria mutation in the ferroportin SLC11A3 gene. This mutation is produced by aq substitution of tyrosine for cysteine at position of the HFE gene CY. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Genetic structure of Mediterranean populations revealed by Ychromosome haplotype analysis.

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Mutaciones CY y H63D del gen de la hemocromatosis en pacientes con sobrecarga ferrica.

Dis Markers, 17pp. Clin Genet, 61pp. Genet Test, 4pp. This item has received.

Hemocromatosis hereditaria

Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene HFE generates an increased absorption and severe iron overload.

Treatment consists on mobilizing iron deposits from the body by serial phlebotomies.

Nat Genet, 25pp. Transferrin receptor-2 gene and non-CY homozygous patients with hemochromatosis. Blood, 97pp. Mutation analysis of the transferring receptor-2 gene in patients with iron overload. Ann Intern Med,pp. Conclusion The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. N Engl J Med,pp.

To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Med Clin Barc, pp. Blood Cells Mol Dis, 27pp. Blood Cells Mol Dis, 72pp. Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

Blood Cells Mol Dis, 26pp. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. The prevalence of CY homozygosity in patients with hereditary hemochromatosis HH has been reported to be markedly lower in the Mediterranean Basin than in northern Europe.

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No significant differences in phenotypic expression or in the frequency of CY homozygosity were observed between patients born in the North and South of Spain.

Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura

The criteria for HH diagnosis were: Early institution of therapy results in very good prognosis, reducing the risk of cirrhosis, hepatic decompensation and hepatocellular carcinoma. The American study herediatria that a multi-ethnic population of every white people is homozygous for the CY HFE gene mutation, implicated in hemochromatosis type 1.

The diseas has traditionally been described in groups of celtic origin of northern Europe for more than years. How to cite this article.

It is common in European populations, but it is frequently misdiagnosed with other diseases such hereditariaa alcoholic liver disease and several arthropaties. Eur J Hum Genet, 9pp.