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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Gut, 41 hemocrokatosis, pp. Am J Hum Genet, 60pp. The development of new diagnostic techniques, such as genetic studies for HFE mutation, has improved early detection that permits prompt therapy, preventing morbidity and mortality in healthy carriers.

Clin Genet, 61pp. 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. Gastroenterology,pp. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. All the hemocromagosis of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

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Hemocromatosis hereditaria

Blood, 97pp. This mutation is produced by aq substitution of tyrosine for cysteine at position of the HFE gene CY. Long-term survival in patients with hereditary hemochromatosis. Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease. Services on Demand Article.


Prevalence of the CY mutation for haemochromatosis on the Island of Majorca. Cases in related individuals were excluded. Early institution of therapy results in very good prognosis, reducing the risk of cirrhosis, hepatic decompensation and hepatocellular carcinoma.

Prevalence of the CysTyr and His63Asp gene mutations hemocrokatosis Spanish patients with hereditary hemocromatosis and in controls.

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

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 diseas has traditionally been described in groups of celtic origin of northern Europe for more than years.

Med Clin Barc, pp. Transmission has an autosomic, recessive pattern jemocromatosis produces iron overload, and is genetically located in chromosome 6, due to a mutation of the HFE gene.

Hemocromatosis hereditaria –

Hereditary hemochromatosis is a disorder related to iron metabolism. 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. It is common in European populations, but it is frequently misdiagnosed with other diseases such as alcoholic liver disease and several arthropaties.

Se excluyeron los casos detectados en familiares. Continuing navigation will be considered as acceptance of this use.


Blood Cells Mol Dis, 72pp. 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.

Am J Phys Anthropol,pp. A population based study of the clinical expression of the hemocromatosis gene. 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. Santa Coloma de Gramenet. Scand J Gastroenterol, 36pp.

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Rev Esp Enf Dig, 93pp. Two novel hefeditaria mutations of HFE gene in five unrelated italian patients with hemochromatosis. Se continuar a navegar, consideramos que aceita o seu uso.

Blood Cells Mol Dis, 22pp. Immunogenetics, 5pp.