Porphyria cutanea tarda in the HFE-gene and hepatitis C virus era

Vautier, G

doi:10.1016/s0002-9270(00)02137-7

Cited by 4 publications

(6 citation statements)

References 17 publications

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“…HH is most commonly found in Northern European descendants, affecting 1 in 300 persons from this ethnic group (6,7). Three missense mutations in the HFE gene are more frequently associated with HH and with an autosomal recessive pattern.…”

Section: Introductionmentioning

confidence: 99%

“…This mutation is responsible for 60% of the HH cases in the Mediterranean population (8), with a North to South decrease in frequency (9,10). An aspartic acidto-histidine conversion at amino acid 63 (H63D) is widely spread among many populations (8,(11)(12)(13) and has a frequency of 15-20% in HH cases (7). The third mutation results from a serine-to-cysteine conversion in amino acid position 65 (S65C), with an allelic frequency of 1.4% (14).…”

Section: Introductionmentioning

confidence: 99%

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HFE gene mutations in Brazilian thalassemic patients

Oliveira¹,

Souza²,

Jardim³

et al. 2006

Braz J Med Biol Res

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Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were 0.98, 2.38, and 0.29% for the C282Y mutation, 13.72, 13.70, and 9.54% for the H63D mutation, and 0, 0.60, and 0.87% for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among betathalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

HFE gene mutations in Brazilian thalassemic patients

Oliveira¹,

Souza²,

Jardim³

et al. 2006

Braz J Med Biol Res

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“…There has been virtually a literature explosion documenting the importance of often subtle increases in intrahepatic iron content, ROS‐generation, and resultant hepatocyte injury in alcoholic liver disease, chronic hepatitis C, NAFLD/NASH, and PCT ( e.g. , 118‐122). Interestingly, there is a definite increase in the prevalence of HFE mutations, and TfR and CYP1A2 polymorphisms in all of these conditions.…”

Section: Commentsmentioning

confidence: 99%

“…With the removal or reduction of risk factors and resulting decreased production of ROS, enzyme activity is restored by de novo synthesis of new, active UROD enzyme. From reference 120, with permission of the authors and publisher.…”

Section: Commentsmentioning

confidence: 99%

An editor's look-back

Berk

2006

Hepatology

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“…The concept of iron acting synergistically with HCV to increase liver damage is entirely plausible. Iron is well described as a cofactor in several other liver diseases, including those caused by alcohol, carbon tetrachloride, non‐alcoholic steatohepatitis, and porphyria cutanea tarda (22,23). The exact mechanisms by which iron influences HCV infection are unknown.…”

Section: Iron As a Cofactor In Chronic Hepatitis C Infectionmentioning

confidence: 99%