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Titolo:
Genetic hemochromatosis and the HFE gene
Autore:
Moirand, R;
Indirizzi:
Hop Pontchaillou, Clin Malad Foie, F-35033 Rennes, France Hop Pontchaillou Rennes France F-35033 alad Foie, F-35033 Rennes, France Hop Pontchaillou, Unite Alcool, F-35033 Rennes, France Hop Pontchaillou Rennes France F-35033 te Alcool, F-35033 Rennes, France
Titolo Testata:
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
fascicolo: 2, volume: 184, anno: 2000,
pagine: 325 - 336
SICI:
0001-4079(2000)184:2<325:GHATHG>2.0.ZU;2-7
Fonte:
ISI
Lingua:
FRE
Soggetto:
MAJOR HISTOCOMPATIBILITY COMPLEX; HEREDITARY HEMOCHROMATOSIS; H63D MUTATIONS; HLA-H; TRANSFERRIN RECEPTOR; IRON-METABOLISM; CANDIDATE GENE; C282Y MUTATION; EXPRESSION; POPULATION;
Keywords:
hemochromatosis, diagnosis; hemochromatosis, genetics; iron overload; HLA antigens, genetics; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Moirand, R Hop Pontchaillou, Clin Malad Foie, F-35033 Rennes, France Hop Pontchaillou Rennes France F-35033 F-35033 Rennes, France
Citazione:
R. Moirand, "Genetic hemochromatosis and the HFE gene", B ACA N MED, 184(2), 2000, pp. 325-336

Abstract

The discovery of the HFE gene has lead to considerable improvement in the understanding and the management of genetic hemochromatosis. More than 90 %of well-defined patients are homozygous for the C282 Y mutation, and genetic testing has become an important diagnostic tool. The significance of theother mutations in the HFE gene remain controversial : only C282Y / H63D compound heterozygotes could present with a phenotype compatible with hemochromatosis, but with a mild expression and a low penetrance. The link between iron overload and HFE mutation is explained by the interaction between HFE protein, beta-2-microglobulin and transferrin receptor; which is abolished by the C282Y mutation, but is not yet fully understood.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 20:57:42