title: [Heterozygosis H63D in patients with steatohepatitis and chronic hepatitis C].
abstract: OBJECTIVE
  Classic hereditary hemochromatosis is an autosomal recessive iron-overload disorder associated with mutation of the HFE gene. The homozygous genetic defect predisposes to a chain of events that may culminate in severe damage in multiple organs. Pathologic implications of heterozygous defect are still questionable; in fact since these individuals may have slight increases in intra-cellular iron, it has been questioned whether this would enhance damage from other diseases. We investigated whether steatohepatitis and chronic hepatitis C can be worsened by heterozygosis for C282Y and H63D.
  
  
  METHODS
  We investigated 216 subjects with Steatohepatitis and/or chronic hepatitis C diagnosed by ultrasonography and liver biopsy with histological assessment compared with 110 healthy subjects. In all subjects we performed Saturated Transferrine, Plasma Ferritin and the research of HFE mutation by a Real Time Method. A statistical analysis was performed.
  
  
  RESULTS
  A H63D mutation was present in 32/108 patients with Steatohepatitis, in 30/108 patients with chronic hepatitis C and in 22/110 healthy subjects. A C282Y mutation was present in 2/108 patients with chronic hepatitis C, in 4/108 with steatohepatitis and in 2/108 healthy subjects. No significant difference was present about incidence of this mutation between pathological and healthy subjects. No significant differences have observed between pathological groups and normal group about the degree of histological damage.
  
  
  CONCLUSIONS
  Our study revealed that steatohepatitis and chronic hepatitis C cannot be worsened by heterozygosis for C282Y and H63D.
authors.affiliation: Dipartimento di Medicina Interna e Patologie Sistemiche, Università di Catania, U.O. di Medicina Interna Azienda Policlinico. d.pulvirenti2@virgilio.it
authors.forename: D
authors.initials: D
authors.lastname: Pulvirenti
authors.forename: S
authors.initials: S
authors.lastname: Neri
authors.forename: G
authors.initials: G
authors.lastname: Bertino
authors.forename: N
authors.initials: N
authors.lastname: Cutuli
authors.forename: L
authors.initials: L
authors.lastname: Ignaccolo
authors.forename: M
authors.initials: M
authors.lastname: Misseri
authors.forename: A
authors.initials: A
authors.lastname: Tsami
authors.forename: L
authors.initials: L
authors.lastname: Caruso
mesh_terms: D001706:Biopsy; D003627:Data Interpretation, Statistical; D005234:Fatty Liver / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D019698:Hepatitis C, Chronic / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D014168:Transferrin / Q000032:analysis; D014463:Ultrasonography
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins