title: The relation of iron status and hemochromatosis gene mutations in patients with chronic hepatitis C.
abstract: OBJECTIVE
  Elevated hepatic iron concentration may affect the response to antiviral therapy in chronic hepatitis C. This study explored the contribution of genetic hemochromatosis to iron accumulation in chronic hepatitis C.
  
  
  METHODS
  HFE mutations (C282Y and H63D) were assessed in 184 patients with chronic hepatitis C virus and 487 controls. Liver biopsy specimens were available in 149 patients. Hepatic iron content was measured in 114 patients by atom-absorption spectrophotometry.
  
  
  RESULTS
  The C282Y and H63D allele frequencies were 7.06 and 11.6 in patients and 4.83 and 11.09 in controls, respectively. Eight patients were homozygotes (5 C282Y [2.7%] and 3 H63D [1.6%]), 2 compound heterozygotes (1%), and 49 heterozygotes (14 C282Y [7.6%] and 35 H63D [19%]). Biochemical evidence of iron overload was more common in patients with HFE mutations (28 of 47) than in those without (34 of 102; P = 0.0045). Histological iron grading and hepatic iron content overlapped among patients with or without mutations. A hepatic iron index of >1.9 was observed only in 1 of the 4 C282Y homozygotes and 1 of the 3 H63D homozygotes.
  
  
  CONCLUSIONS
  HFE mutations contribute to but do not fully explain hepatic iron accumulation in chronic hepatitis C. Furthermore, C282Y or H63D homozygosity in chronic hepatitis C is not necessarily associated with a high hepatic iron content.
authors.affiliation: Department of Internal Medicine IV, University of Vienna, Vienna, Austria.
authors.forename: L
authors.initials: L
authors.lastname: Kazemi-Shirazi
authors.forename: C
authors.initials: C
authors.lastname: Datz
authors.forename: T
authors.initials: T
authors.lastname: Maier-Dobersberger
authors.forename: K
authors.initials: K
authors.lastname: Kaserer
authors.forename: F
authors.initials: F
authors.lastname: Hackl
authors.forename: C
authors.initials: C
authors.lastname: Polli
authors.forename: P E
authors.initials: PE
authors.lastname: Steindl
authors.forename: E
authors.initials: E
authors.lastname: Penner
authors.forename: P
authors.initials: P
authors.lastname: Ferenci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001317:Austria; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D019698:Hepatitis C, Chronic / Q000150:complications / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019190:Iron Overload / Q000150:complications / Q000378:metabolism; D008099:Liver / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction
chemical_list: D007501:Iron