Comprehensive hereditary hemochromatosis genotyping

D C Jones, Neil Thomas Young, C Pigott, S V Fuggle, M C N M Barnardo, S E Marshall, M Bunce

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20 Citations (Scopus)


Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.
Original languageEnglish
Pages (from-to)481-488
Number of pages8
JournalTissue Antigens
Issue number6
Publication statusPublished - 1 Dec 2002


  • DNA Mutational Analysis
  • DNA Primers
  • Gene Frequency
  • Genotype
  • Hemochromatosis
  • Histocompatibility Antigens Class I
  • Humans
  • Membrane Proteins
  • Point Mutation
  • FTH1
  • HFE
  • iron overload
  • mutation
  • TFR2


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