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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Se continuar a navegar, consideramos que aceita o seu uso. Am J Gastroenterol, 92pp.
Blood Cells Mol Dis, 72pp. Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. Are you a health professional able to prescribe or dispense drugs? Rev Hemocromatowis Enf Dig, 93pp. Gastroenterology, 92pp. Clinical and pathologic findings in nemocromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.
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.
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. Blood Cells Mol Dis, 22pp. Gastreonterology,pp. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis.
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene SLC11A3. 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. Patients are advised to avoid alcohol consumption and to avoid iron supplements.
Blood Cells Mol Dis, 25pp. Long-term survival in patients with hereditary hemochromatosis.
Hemocromatosis hereditaria – Bibliografía
A population based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. J Intern Med,pp. Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail. A population based study of the clinical expression of the hemocromatosis gene. Genotype and phenotypic expression of hereditary hemochromatosis in spain.
Print Send to a friend Export reference Mendeley Statistics. Noninvasive prediction of fibrosis in CY homozygous hemochromatosis.
The prevalence of CY homozygosity in patients with hereditary hemochromatosis HH has been heomcromatosis to be markedly lower in the Mediterranean Basin than in northern Europe.
J Clin Invest,pp. 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.
Hemicromatosis, 5pp. Am J Hum Genet, 60pp. Human Y-chromosome variation in the western Mediterranean area: Nat Genet, 25pp.
English pdf Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.
J Hepatol, 33pp. You can change the settings or obtain more information by clicking here. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. Chelation therapy has limited use in this disorder, and is not recommended.
Conclusion The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. 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.
Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. Si continua navegando, consideramos que acepta su uso. Gastroenterology,pp.