The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

@article{MerryweatherClarke1998TheEO,
  title={The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population},
  author={Alison T. Merryweather-Clarke and Mark Worwood and L. Parkinson and Christopher Mattock and Jennifer J. Pointon and Jeremy D. Shearman and Kathryn J. H. Robson},
  journal={British Journal of Haematology},
  year={1998},
  volume={101}
}
High frequencies of the haemochromatosis‐related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes. However, the degree of penetrance of this genotype is unknown. We determined the HFE C282Y and H63D genotypes of 411 consenting volunteer blood donors on Jersey, and the serum ferritin and transferrin saturation levels of 204 of these volunteers. The C282Y allele frequency was found to be 8.3% in 822… 
Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism
TLDR
TSI and serum ferritin values detected most HFE C282Y variant homozygotes and are recommended to facilitate the clinical diagnosis of HH and very significant differences in serum iron values were observed.
HFE mutations, iron deficiency and overload in 10 500 blood donors
TLDR
Donors lacking the mutations and donors homozygous for H63D and C282Y were at no greater risk of iron accumulation than donors lacking mutations, and serum ferritin concentrations were no higher in H 63D heterozygotes and C281Y heterozygous women than in donors lacking mutation.
HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes.
TLDR
The elevated TS in subjects carrying a single copy of the C282y mutation suggests that C282Y heterozygosity is associated with an increased intestinal iron absorption and might therefore offer a selection advantage in conditions of iron depletion.
Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population.
TLDR
Heterozygous individuals with higher transferrin saturation values may be protected against iron loss but may also be more susceptible for certain liver diseases, depending on the simultaneous prevalence of other diseases.
Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample
TLDR
The results suggest that the admixture of native populations with subjects of South European origin might have had an important role in the diffusion of HFE alleles in Venezuela, and indicates that C282Y homozygotes will be rarely detected.
Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women.
TLDR
It is concluded that the compound heterozygous HFE genotype C282Y/H63D, but not the C282y wild-type genotype, had increased values for serum iron and transferrin saturation, and the younger age group also had increased hemoglobin values.
Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.
TLDR
These studies suggest that neither HFE polymorphism nor genes surrounding HFE are able to modulate HFE expression, suggesting incomplete penetrance of the mutation.
HFE Mutations as risk factors in disease.
  • M. Worwood
  • Biology, Medicine
    Best practice & research. Clinical haematology
  • 2002
TLDR
Testing for HFE mutations in clinics for diabetes, liver disease and cardiovascular disease has shown that homozygosity for C282Y is not commonly found and does not appear to be a risk factor for these common conditions.
Polymorphism of the HFE Gene Associated with Hereditary Hemochromatosis in Populations of Russia
TLDR
The HFE allele frequency distribution patterns observed in the populations examined pointed to pre-Celtic appearance of the C282Y allele, which provides an explanation of the evolutionary genetic relationships between Siberian ethnic groups and the contemporary populations of Eastern and Western Europe.
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