title: [Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload].
abstract: BACKGROUND
  The pathogenesis of iron overload in alcoholic individuals is not fully elucidated. The frequency of mutations in hereditary hemochromatosis (HFE) is high in this population. Heterozygotes show data of iron overload similar to those in alcoholic individuals.
  
  
  OBJECTIVE
  To analyze whether iron excess among alcoholic individuals is associated with mutations in C282Y, H63D or S65C in the HFE gene. Patients and methods. Thirty-two active alcoholic individuals (29 males and 3 females, age range 30-67 years) with data of iron overload (increased serum ferritin with or without saturation of increased transferrin) were studied. In all individuals, mutations C282Y, H63D and S65C were investigated. From 16 cases, liver histology was available. Data on iron overload were compared between patients with and without mutations.
  
  
  RESULTS
  Twenty-two patients (68.8%) did not show any mutation, one (3.1%) was heterozygous for C282Y, three (9.4%) were homozygous for H63D, four (12.5%) were heterozygous for H63D, and two patients (6.3%) were heterozygous for C282Y/H63D. None of the patients was homozygous for C282Y or presented mutation in S65C. Transferrin saturation, serum ferritin and liver iron index were similar among with and without mutations. Three patients (9.3%) were diagnosed of hemochromatosis. One of them was homozygous for H63D, other patient was heterozygous for the combined C282Y/H63D, and in the remaining patient none of the mutations was found.
  
  
  CONCLUSIONS
  In our setting, iron overload among alcoholic individuals seems to be independent of the presence of mutations C282Y, H63D and S65C in the HFE gene.
mesh_terms: D000328:Adult; D000368:Aged; D000437:Alcoholism / Q000150:complications / Q000235:genetics*; D005260:Female; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins
vernacular_title: Mutaciones en el gen HFE (C282Y, H63D, S65C) en pacientes alcohólicos con datos de sobrecarga de hierro.