title: [Analysis of the HFE gene in a large Spanish kindred with hereditary hemochromatosis].
abstract: BACKGROUND
  Hereditary hemochromatosis (HH) is an inborn error of iron metabolism that is inherited as an autosomal recessive trait. Recently, it has been shown that the HFE gene, located telomeric to HLA-A on chromosome 6 is mutated in most patients with HH. Moreover, the phenotypic expression of hereditary hemochromatosis is influenced by sex and environmental agents such as alcohol and dietary iron intake.
  
  
  METHODS
  We have studied 40 subjects from a family some of which members have HH. DNA was obtained from nucleated peripheral blood cells, and exons 2 and 4 and intron 5 of the HFE gene were amplified by PCR and digested with specific restriction enzymes.
  
  
  RESULTS
  Analysis of the HFE gene revealed that 29 members of the family carry some of the three HFE mutations (C282Y, H63D and S65C). Nevertheless, only those homozygous for the C282Y mutation develop HH. In this family, the allele 187G of exon 2 mutation is cosegregated with the allele IVS5-47 A in intron 5.
  
  
  CONCLUSIONS
  Analysis of the HFE gene in the members of a large Spanish kindred, living in the same geographical area, shows that only those homozygous for the C282Y mutation develop hemochromatosis.
authors.affiliation: Unidad de Medicina Molecular. Departamento de Medicina.
authors.forename: S
authors.initials: S
authors.lastname: Roa
authors.forename: J A
authors.initials: JA
authors.lastname: Martín-Oterino
authors.forename: R E
authors.initials: RE
authors.lastname: Rodríguez
authors.forename: B
authors.initials: B
authors.lastname: García-Berrocal
authors.forename: A
authors.initials: A
authors.lastname: Sánchez-Rodríguez
authors.forename: R
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D015234:HLA-A Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D013030:Spain
chemical_list: D015234:HLA-A Antigens