HFE gene mutations and iron metabolism in Wilson's disease.
BACKGROUND
There is increasing evidence for an interaction between iron and copper metabolism.


METHODS
Iron indices (ferritin, transferrin saturation [TS], serum iron), liver parameters, the prevalence and significance of C282Y and H63D HFE mutations were studied in 40 unrelated, Caucasian patients with Wilson's disease and 295 healthy controls. Due to specific treatment Wilson's disease was well controlled in all but one patient.


RESULTS
The allele frequencies for the C282Y (11.3% vs. 6.2%) and the H63D (18.8% vs. 16.4%) mutation did not differ between patients with Wilson's disease and healthy controls. One patient with C282Y homozygous HH and Wilson's disease was identified showing progressive liver disease despite reasonable venesection and copper chelation therapy. No differences in iron indices and liver values were seen between HFE heterozygous and HFE wildtype patients with Wilson's disease. Higher serum ferritin levels were noticed in patients with Wilson's disease compared to healthy controls (149 +/- 26 microg/l vs. 87 +/- 8 microg/l; P < 0.03).


CONCLUSIONS
It appears reasonable to assess iron indices in patients with Wilson's disease in order to detect iron overload. HFE mutations other than C282Y homozygosity seem to have no impact on iron indices and liver parameters as long as Wilson's disease is controlled.
Erhardt
Andreas
A
Klinik für Gastroenterologie, Hepatologie und Infektiologie des Universitätsklinikums Düsseldorf, Klinik für Neurologie des Universitätsklinikums Düsseldorf.
Hoffmann
Arne
A
Hefter
Harald
H
Häussinger
Dieter
D
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000032:analysis / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D012016:Reference Values; D014168:Transferrin / Q000032:analysis
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D004247:DNA; D005293:Ferritins; D007501:Iron