title: A 6-year survey of HFE gene test for hemochromatosis diagnosis.
abstract: OBJECTIVE
  A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis.
  
  
  METHODS
  We analyzed C282Y, H63D, and S65C mutations on 3525 individuals.
  
  
  RESULTS
  The test produced 89.7% and 30% of positive results for individuals clinically diagnosed hemochromatosis before HFE gene-test availability and those prospectively tested because of elevated serum iron parameter and/or family history, respectively; among them there were 90.4% and 48.7% of C282Y homozygotes.
  
  
  CONCLUSIONS
  The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.
authors.affiliation: INSERM U613 Génétique moléculaire et génétique épidémiologique, UBO, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Mura
authors.forename: Odile
authors.initials: O
authors.lastname: Raguénes
authors.forename: Virginie
authors.initials: V
authors.lastname: Scotet
authors.forename: Sandrine
authors.initials: S
authors.lastname: Jacolot
authors.forename: Anne-Yvonne
authors.initials: AY
authors.lastname: Mercier
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003625:Data Collection; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods; D017354:Point Mutation / Q000235:genetics*; D011237:Predictive Value of Tests
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins