The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients

Background/Aim: Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is unknown. The aim of the study was to investigate the relationship between mutations in HFE, hepatitis C and porphyria cutanea tarda. Methods...

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Bibliographic Details
Published in:Journal of hepatology 1998-03, Vol.28 (3), p.404-409
Main Authors: Stuart, Katherine A., Busfield, Frances, Jazwinska, Elizabeth C., Gibson, Peter, Butterworth, Lesley A., Cooksley, W.Graham, Powell, Lawrie W., Crawford, Darrell H.G.
Format: Article
Language:English
Subjects:
Adult
Aged
Australia
Biological and medical sciences
Female
Ferritins - blood
Gene Dosage
Gene Frequency - genetics
Hemochromatosis - genetics
Hepacivirus - immunology
Hepatitis C - genetics
Hepatitis C virus
Hereditary hemochromatosis
Heterozygote
HFE
Homozygote
Humans
Immunoglobulin G - analysis
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Middle Aged
Mutation - genetics
Other metabolic disorders
Porphyria cutanea tarda
Porphyria Cutanea Tarda - genetics
Transferrin - analysis
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Summary:Background/Aim: Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is unknown. The aim of the study was to investigate the relationship between mutations in HFE, hepatitis C and porphyria cutanea tarda. Methods: The frequencies of the C282Y and H63D mutations in HFE were determined in 27 patients with porphyria cutanea tarda and compared with the reported control frequencies. In addition, the presence of hepatitis C virus infection was identified and related to the patients' HFE status. Results: The C282Y mutation was found in 44.4% of patients compared with the control frequency of 12% ( p
ISSN:0168-8278
1600-0641
DOI:10.1016/S0168-8278(98)80313-9