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Titolo:
C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload
Autore:
Jorquera, F; Dominguez, A; Diaz-Golpe, V; Espinel, J; Munoz, F; Herrera, A; Fernandez-Gundin, MJ; Vivas, S; Olcoz, JL;
Indirizzi:
Hosp Leon, Secc Digest, Serv Aparato Digest, Leon 24071, Spain Hosp Leon Leon Spain 24071 igest, Serv Aparato Digest, Leon 24071, Spain
Titolo Testata:
REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
fascicolo: 5, volume: 93, anno: 2001,
pagine: 298 - 302
SICI:
1130-0108(200105)93:5<298:CAHMOT>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY HEMOCHROMATOSIS; HLA-H; CYS282TYR MUTATION; PREVALENCE; POPULATION; HFE;
Keywords:
haemochromatosis; iron overload; C282Y mutation; H63D mutation; HEF gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Jorquera, F Hosp Leon, Secc Digest, Serv Aparato Digest, C-Altos Nava S-N,Leon 24071,Spain Hosp Leon C-Altos Nava S-N Leon Spain 24071 Leon 24071,Spain
Citazione:
F. Jorquera et al., "C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload", REV ESP E D, 93(5), 2001, pp. 298-302

Abstract

Objective: to determine the relevance of C282Y and H63D mutations of HEF gene in patients with iron overload. Patients and methods: patients with iron overload referred to our Liver Unit were included in the study. The association of mutations to different diagnosis and their impact on the severity of the hepatopathy were explored. Sensitivity, specificity and positive and negative predictive values of mutations for the diagnosis of haemochromatosis were determined. Results: the study included 78 patients with iron overload. The control group included 21 patients of similar age and sex ratio without iron overloadnor hepatopathy. Twenty three patients had haemochromatosis, 22 alcoholic liver disease and 33 other diseases unrelated to iron metabolism. Seventy three per cent of patients with haemochromatosis were homozygous for the C282Y mutation. All the C282Y homozygous subjects had also haemochromatosis. Fifty three per cent of patients with alcoholic hepatopathy had some kind ofmutation. This has been also observed in 70% of patients with iron-unrelated diseases. Such percentage was significantly greater than in the control group (24% with H63D mutation). C282Y homozygosity in patients with iron overload had a sensitivity of 73.9%, a specificity of 100%, a positive predictive value of 100% and a negative predictive value of 89.6%. Conclusions: in our population, as in all the Western countries, haemochromatosis is mainly associated to homozygous C282Y mutation. The high frequency of mutations in patients with iron overload and without haemochromatosissuggests the involvement of such mutations in iron overload.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 12:26:19