title: High prevalence of HFE gene mutations in hemodialysis patients.
abstract: OBJECTIVE
  Hemochromatosis (HH) was a common inherited disease characterized by iron overload. This disease is usually the result of mutations in the HLA-linked hemochromatosis gene (HFE). The aim of this study was to evaluate the frequency of HFE mutations in a group of Venetian hemodialysis patients.
  
  
  METHODS
  Sixty-one hemodialysis patients, 62 patients with laboratory findings suggestive for iron overload, 57 repeat blood donors were enrolled in the study. HFE mutations were detected by using a commercial strip assay.
  
  
  RESULTS
  In this study only H63D and C282Y mutations were observed. The overall prevalence of HFE mutations was 40.9% among hemodialysis patients, 30.6% among patients with laboratory findings of iron overload and 15.8% among blood donors.
  
  
  CONCLUSIONS
  A high prevalence of HFE mutation among hemodialysis patients was observed. Prevalence of HFE mutation in this group was 40.9%, significantly higher than results observed among blood donors (15.8%, P<0.005) or among patients with laboratory signs of iron overload (30.6%, P<0.01). These data are, at present inexplicable, and this results need further confirmation.
authors.affiliation: Nephrology and Dialysis Unit, Chioggia Community Hospital, Chioggia, Venice, Italy. gmennella@asl14chioggia.veneto.it
authors.forename: G
authors.initials: G
authors.lastname: Mennella
authors.forename: S
authors.initials: S
authors.lastname: Valverde
authors.forename: S
authors.initials: S
authors.lastname: Forzan
authors.forename: M
authors.initials: M
authors.lastname: Fezzi
authors.forename: G
authors.initials: G
authors.lastname: Munaretto
authors.forename: G
authors.initials: G
authors.lastname: Gessoni
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D006435:Renal Dialysis
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins