title: Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.
abstract: Hereditary haemochromatosis is an autosomal recessive disorder characterised by life-long excessive accumulation of iron. A candidate gene for hereditary haemochromatosis has recently been reported (HLA-H) and a specific missense mutation (Cys282Tyr) has been identified in 85% of patients with the disorder. We describe the rapid detection of this mutation using the polymerase chain reaction and restriction endonuclease digestion. The usefulness of this test for early diagnosis of hereditary haemochromatosis in asymptomatic family members is highlighted.
authors.affiliation: Department of Haematology, Bristol Royal Infirmary, UK.
authors.forename: S
authors.initials: S
authors.lastname: Aslam
authors.forename: G R
authors.initials: GR
authors.lastname: Standen
mesh_terms: D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005805:Genes, MHC Class I; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; D003545:Cysteine