title: Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
abstract: BACKGROUND
  Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH.
  
  
  METHODS
  In this cross-sectional study, 12 HH patients were recruited, who were referred to Firoozgar Hospital, Tehran, Iran. In addition to the clinical assessments, a complete laboratory evaluation, imaging modalities, histopathologic assessment, atomic absorption spectrophotometry and gene mutation study were performed. The genetic study for HFE gene mutation was examined for all of the patients since 2006, while non-HFE mutation was conducted since December 2010 (only for 1 of them).
  
  
  RESULTS
  Twelve patients were evaluated consisting of 11 men and 1 woman, with the mean age of 39.58±12.68 yr. The average of atomic iron loads was 13.25±4.83-fold higher than normal standards. Four patients had heterozygotic mutation of H63D (33.3%). There was no significant difference in either the iron load of liver (P=0.927) and heart (P=0.164) or serum concentration of ferritin (P=0.907) and TIBC (P=0.937) between the HFE-mutant and without HFE mutation HH cases.
  
  
  CONCLUSIONS
  In contrast to other studies, C282Y mutation was not detected in any of our Iranian HH patients. Heterozygotic mutations of H63D (HFE) and TFR2 (non-HFE) genes were found to be more common in these patients. Similar to previous reports, these mutations were not found to be significantly associated with severity of presentation in HH patients.
authors.affiliation: Gastrointestinal and Liver Disease Research Center (GILDRC), Firoozgar Hospital, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
authors.forename: Farhad
authors.initials: F
authors.lastname: Zamani
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Bagheri
authors.forename: Maryam
authors.initials: M
authors.lastname: Bayat
authors.forename: Seyed-Mohammad
authors.initials: SM
authors.lastname: Fereshtehnejad
authors.forename: Ali
authors.initials: A
authors.lastname: Basi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Hossein
authors.initials: H
authors.lastname: Ajdarkosh
mesh_terms: D000328:Adult; D019411:Clinical Laboratory Techniques; D005260:Female; D006432:Hemochromatosis / Q000097:blood* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D007492:Iran; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014463:Ultrasonography
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins