title: Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload.
abstract: OBJECTIVE
  Hemochromatosis is a common inherited disorder of iron metabolism and one of the most important causes of iron overload. The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with clinical and laboratory variables.
  
  
  METHODS
  Prospective study, in Discipline of Hematology and Oncology, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo.
  
  
  METHODS
  We studied 35 patients with iron overload seen at our outpatient unit between January 2001 and December 2003. Fasting levels of serum iron and ferritin, and total iron-binding capacity, were assayed using standard techniques. Determinations of C282Y, H63D and S65C mutations in the HFE gene and of HLA-A alleles were performed by polymerase chain reaction (PCR).
  
  
  RESULTS
  Twenty-six out of 35 patients (74%) presented at least one of the HFE gene mutations analyzed. Among these, five (14%) were C282Y/C282Y, four (11%) C282Y/H63D, one (3%) H63D/H63D, six (17%) C282Y/WT and ten (29%) H63D/WT. No patients had the S65C mutation and nine (25%) did not present any of the three HFE mutations. Four out of five patients with C282Y/C282Y genotype (80%) and three out of four patients with C282Y/H63D genotype (75%) were HLA A*03.
  
  
  CONCLUSIONS
  Analysis of HFE gene mutations constitutes an important procedure in identifying patients with hereditary hemochromatosis, particularly for patients with iron overload.
authors.affiliation: Department of Internal Medicine, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil. rdcan@uol.com.br
authors.forename: Rodolfo Delfini
authors.initials: RD
authors.lastname: Cançado
authors.forename: Aline Cristiane de Oliveira
authors.initials: AC
authors.lastname: Guglielmi
authors.forename: Carmen Silvia Vieitas
authors.initials: CS
authors.lastname: Vergueiro
authors.forename: Ernani Geraldo
authors.initials: EG
authors.lastname: Rolim
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Figueiredo
authors.forename: Carlos Sérgio
authors.initials: CS
authors.lastname: Chiattone
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000151:congenital / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
chemical_list: D005819:Genetic Markers; C103673:HFE protein, human; D015234:HLA-A Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins