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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The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Continuing navigation will be considered as acceptance of this use.
Results A total of Services on Demand Article. 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. SRJ is a prestige metric based on the idea that not all citations hemocromatsois the same. J Hepatol, 33pp.
Genet Test, 4pp. Se excluyeron los casos detectados en familiares. Conclusion The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Clinical features of genetic hemochromatosis in women compared with men. A population based study of the clinical expression of the hemocromatosis gene.
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The objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Spanish patients with HH from different geographical origins.
Clin Genet, 58pp.
Are you a health professional able to prescribe or dispense drugs? This mutation is produced by aq substitution of tyrosine for cysteine at position of the HFE gene CY.
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Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease. This item has received. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. January Pages Patients are advised to avoid alcohol consumption and to avoid hereditatia supplements.
HFE mutations in patients with hereditary haemochromatosis in Sweden.
Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. 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.
J Hepatol, 27pp. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. End-stage liver disease without hemochromatosis associated with elevated hepatic heredtaria index.
Hemocromatosis hereditaria –
Blood Cells Mol Dis, 25pp. J Hepatol, 34pp. Immunogenetics, 5pp. Am J Hum Genet, 60pp. The HFE mutation results in an increased intestinal iron absorption that accumulates in several organs and tissues heart, liver, joints, pituitary, and pancreas leadinto disfunction and damage such a cardiomyopathy, cirrhosis, arthritis, hypogonadism, and diabetes.
Am J Gastroenterol, 92pp. In Spain, the available data are hereditaaria and limited to small series in specific regions. The diseas has traditionally been described in groups of celtic origin of northern Europe for more than years.
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. It is common in European populations, but it is frequently misdiagnosed with other diseases such as alcoholic liver disease and several arthropaties.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene SLC11A3. The UK Hemochromatosis Consortium.
N Engl J Med,pp.