Hepatic pathology in relatives of patients with hæmochromatosis

Scheuer, Peter J.; Williams, Roger; Muir, A L

doi:10.1002/path.1700840107

Cited by 396 publications

(159 citation statements)

References 25 publications

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“…When iron was present, the degree of positivity was assessed semiquantitatively. 31 Mutational analysis of the HFE gene was performed on DNA extracted from frozen stored samples of blood using the QIAamp Blood Kit (Qiagen, Santa Clarita, CA) and amplified by PCR, which was followed by restriction endonuclease digestion. The products were separated by agarose gel electrophoresis and visualized by ethidium bromide staining.…”

Section: Methodsmentioning

confidence: 99%

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america

et al. 1998

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In some, but not all countries, porphyria cutanea tarda (PCT) has been associated with chronic infection with the hepatitis C virus (HCV). Recently, PCT has also been associated with mutations in the HFE gene that are associated with HLA-linked hereditary hemochromatosis. Until now, few studies of these associations have been reported from North America. The aims of this study were: 1) to assess the prevalence of HCV infection and HFE mutations in North American patients with PCT; 2) to compare demographic and laboratory features between those who are HCV-positive and HCV-negative; and 3) to study urinary porphyrin excretions in American HCV-positive patients without clinically manifest PCT. Clinical and laboratory data, including tests for HCV and urinary porphyrins, were collected from 70 unselected patients with typical PCT. Urinary porphyrins were also measured in 110 non-PCT patients with chronic hepatitis C. Mutational analyses of the HFE gene were performed in 26 PCT patients. Thirtynine of 70 (56%) of the PCT patients had evidence of HCV infection. Thirty-two of 39 PCT patients with HCV were men, all of whom used alcohol. In contrast, 22 of 31 PCT patients without HCV infection were women, 12 of whom had taken estrogens. The HCV-positive group was more likely to have used illicit intravenous drugs (45% vs. 0%; P ‫؍‬ 0.01), to have had several (G4) sex partners (48% vs. 13%; P ‫؍‬ 0.005), and less likely to have no known risk factors for HCV infection (33% vs. 78%; P ‫؍‬ 0.004). Total urinary porphyrin excretion was the same in the two groups, but those with HCV infection had a significantly lower percentage of uroporphyrin and higher percentages of hepta-and hexa-carboxy porphyrins in urine. Sixteen of 110 (15%) HCV-positive subjects without PCT had increased urinary porphyrins, but, unlike PCT, these were mainly coproporphyrin. Forty-two percent of PCT patients carried the C282Y mutation of HFE (15% homozygous), and another 31% carried the H63D mutation (8% homozygous). Thus, 73% of PCT patients had one of these mutations. The prevalence of HCV infection (56%) and mutations in the HFE gene (73%) are high among North American patients with PCT. Alcohol and estrogen use are important additional risk factors. All PCT patients should be tested for HCV infection and for HFE gene mutations. Although HCV infection is a trigger for PCT, preclinical PCT is rare in chronic HCV hepatitis C in the United States. (HEPATOLOGY 1998;27:1661-1669.)

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Section: Methodsmentioning

confidence: 99%

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america

et al. 1998

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“…The slides were stained with hematoxylin-eosin and Perls' stain for iron. Histological iron assessment was performed on a scale of 0 to 4ϩ using criteria outlined by Scheuer et al 16 Any liver tissue that had 2ϩ or greater hepatocellular iron by histology was considered to represent hemosiderosis in this study and had supplemental biochemical iron quantitation from the paraffin block by atomic absorption spectrophotometry. This method assures that the iron analysis was performed on representative liver tissue.…”

Section: Methodsmentioning

confidence: 99%

Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors

et al. 1999

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“…8 It was not until 1952 that a therapy became available, when Davis and Arrowsmith reported benefits from treating these patients with phlebotomy. 9 In 1962, the antemortem diagnosis of hemochromatosis became available with the developing of a grading system for iron in liver samples was developed by Scheuer et al 10 Antemortem diagnosis was made easier by the development of reliable serum iron, iron binding capacity, and ferritin testing in the 1960s and 1970s. An HLA locus association was identified by Simon et al 11 in 1975, but the key genetic discovery was the identification of two missense mutations on chromosome 6p in 1996 by Feder et al 1 that accounted for the vast majority of cases of hemochromatosis.…”

Section: Iron Homeostasismentioning

confidence: 99%