title: C282Y hemochromatosis gene mutation and iron parameters in dialysis patients.
abstract: BACKGROUND
  Hereditary hemochromatosis is an autosomal recessive condition causing excessive intestinal iron absorption related to C282Y hemochromatosis mutation gene. Dialysis patients receive intravenous iron supplements as treatment for anemia. The gene mutation frequency and its influence on iron deposits and intravenous iron response are unknown in these patients.
  
  
  METHODS
  Prospective observational.
  
  
  METHODS
  290 dialysis patients in Gran Canaria, Spain.
  
  
  METHODS
  The C282Y hemochromatosis mutation gene was studied. Other active players in iron metabolism have not been included in this study. Red cell parameters, serum iron, transferrin and ferritin concentrations were measured every 2 months for 2 years.
  
  
  RESULTS
  No differences in allelic and genotypic frequencies between dialysis patients and the general population were detected. Baseline clinical or analytical parameters were similar in C282Y +/- and C282Y -/- patients. Among those who did not need intravenous iron treatment, C282Y+/- patients maintained constant serum ferritin (302.1 ± 216.7 vs. 319.5 ± 300.5 µg/l after 4 months), whereas C282Y-/- patients showed decreased levels during the same period (306.7 ± 212.2 vs. 221.6 ± 167.8 µg/l, p < 0.001). After 4 months of parenteral iron, serum ferritin increased more intensely in C282Y +/- patients than in C282Y -/- patients (934.2 ± 195.8 vs. 658.7 ± 259.9 µg/l, p < 0.001). A multivariance analysis identified the C282Y allele as the most important factor that explains this difference.
  
  
  CONCLUSIONS
  Heterozygosity for the C282Y allele of the hemochromatosis mutation gene could be associated with differences in iron parameters in dialysis patients.
authors.affiliation: Nephrology Service, Hospital Ramón y Cajal, Madrid, Spain. afernandezr.hrc@salud.madrid.org
authors.forename: A M
authors.initials: AM
authors.lastname: Fernández Rodríguez
authors.forename: L H
authors.initials: LH
authors.lastname: Gascón
authors.forename: I
authors.initials: I
authors.lastname: García La Orden
authors.forename: J P
authors.initials: JP
authors.lastname: Santos
authors.forename: R G
authors.initials: RG
authors.lastname: Samper
authors.forename: R M
authors.initials: RM
authors.lastname: Letosa
authors.forename: L
authors.initials: L
authors.lastname: Palop Cubillo
authors.forename: J C
authors.initials: JC
authors.lastname: Rodríguez Pérez
authors.forename: J C
authors.initials: JC
authors.lastname: Rodríguez-Gallego
mesh_terms: D000483:Alleles; D000704:Analysis of Variance; D000954:Antigens, Surface / Q000235:genetics; D016009:Chi-Square Distribution; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood* / Q000627:therapeutic use; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D006435:Renal Dialysis; D018709:Statistics, Nonparametric
chemical_list: D000954:Antigens, Surface; C035310:H63 antigen; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron