title: Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.
abstract: OBJECTIVE
  To determine the frequency of HLA-H gene mutations in New Zealand patients with haemochromatosis.
  
  
  METHODS
  The Cys282Tyr and His63Asp mutations in the HLA-H gene were analyzed by polymerase chain reaction, restriction enzyme digestion and electrophoresis in two separate patient groups. The first was a group of 20 Christchurch patients with a definite clinical diagnosis of haemochromatosis. The second group consisted of 33 patients, with a provisional diagnosis of haemochromatosis, attending Dunedin Hospital for therapeutic venesection.
  
  
  RESULTS
  All 20 Christchurch patients and 25 of the 33 (76%) Dunedin patients were homozygous for the Cys282Tyr mutation. After review of the clinical data, histology and response to venesection a diagnosis of haemochromatosis could be confidently excluded in six of the remaining eight patients. Despite atypical features, a diagnosis of haemochromatosis could not be excluded in the final two patients, one of whom was a compound heterozygote for the two mutations.
  
  
  CONCLUSIONS
  Homozygosity for the Cys282Tyr mutation is closely associated with haemochromatosis in New Zealand patients. Molecular analysis of the HLA-H gene is indicated in the assessment of patients with iron overload including those currently being treated by venesection.
authors.affiliation: Department of Gastroenterology, Christchurch Hospital.
authors.forename: M J
authors.initials: MJ
authors.lastname: Burt
authors.forename: J D
authors.initials: JD
authors.lastname: Upton
authors.forename: I M
authors.initials: IM
authors.lastname: Morison
authors.forename: B A
authors.initials: BA
authors.lastname: Chapman
authors.forename: J M
authors.initials: JM
authors.lastname: Faed
authors.forename: P M
authors.initials: PM
authors.lastname: George
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009520:New Zealand; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014443:Tyrosine / Q000235:genetics
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014443:Tyrosine; D003545:Cysteine