title: [Genotype and phenotypic expression of hereditary hemochromatosis in Spain].
abstract: BACKGROUND
  The prevalence of C282Y homozygosity in patients with hereditary hemochromatosis (HH) has been reported to be markedly lower in the Mediterranean Basin than in northern Europe. In Spain, the available data are contradictory and limited to small series in specific regions. The objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Spanish patients with HH from different geographical origins.
  
  
  METHODS
  The criteria for HH diagnosis were: repeat serum transferrin saturation index (> 45% plus C282Y homozygosity and/or hepatic iron index (> 1.9 of dry liver weight in non-cirrhotic patients or (> 4.1 in patients with liver cirrhosis. Cases in related individuals were excluded. Demographic data, clinical expression, iron parameters and HFE gene mutations (C282Y and H63D) were assessed in 222 patients.
  
  
  RESULTS
  A total of 83.3% of patients were C282Y homozygous and 5% were compound heterozygous (C282Y/H63D). No significant differences in phenotypic expression or in the frequency of C282Y homozygosity were observed between patients born in the North and South of Spain.
  
  
  CONCLUSIONS
  The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin.
authors.affiliation: Hospital Universitario de Canarias, La Laguna, Tenerife, Spain. equinter@doymanet.es
authors.forename: A
authors.initials: A
authors.lastname: Pardo
authors.forename: E
authors.initials: E
authors.lastname: Quintero
authors.forename: Y
authors.initials: Y
authors.lastname: Barrios
authors.forename: M
authors.initials: M
authors.lastname: Bruguera
authors.forename: L
authors.initials: L
authors.lastname: Rodrigo
authors.forename: C
authors.initials: C
authors.lastname: Vila
authors.forename: D
authors.initials: D
authors.lastname: Acero
authors.forename: C
authors.initials: C
authors.lastname: Guarner
authors.forename: S
authors.initials: S
authors.lastname: Pascual
authors.forename: L
authors.initials: L
authors.lastname: López
authors.forename: R
authors.initials: R
authors.lastname: Moreno
authors.forename: E
authors.initials: E
authors.lastname: Fábrega
authors.forename: R
authors.initials: R
authors.lastname: Andrade
authors.forename: G
authors.initials: G
authors.lastname: Peláez
authors.forename: J
authors.initials: J
authors.lastname: Santos
authors.forename: M
authors.initials: M
authors.lastname: Buti
authors.forename: M
authors.initials: M
authors.lastname: Torres
mesh_terms: D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D013030:Spain / Q000453:epidemiology
vernacular_title: Genotipo y expresión fenotípica de la hemocromatosis hereditaria en España.