Comprehensive hereditary hemochromatosis genotyping

D.C. Jones; N.T. Young; C. Pigott; S.V. Fuggle; M.C.N.M. Barnardo; S.E. Marshall; M. Bunce

doi:10.1034/j.1399-0039.2002.600603.x

Back

Comprehensive hereditary hemochromatosis genotyping

Journal article

Peer reviewed

Comprehensive hereditary hemochromatosis genotyping

D.C. Jones, N.T. Young, C. Pigott, S.V. Fuggle, M.C.N.M. Barnardo, S.E. Marshall and M. Bunce

Tissue Antigens, Vol.60(6), pp.481-488

2002

DOI: https://doi.org/10.1034/j.1399-0039.2002.600603.x

Files and links (1)

url

Link to Published Version *Subscription may be requiredView

Abstract

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.

Details

Title: Comprehensive hereditary hemochromatosis genotyping
Authors/Creators: D.C. Jones (Author/Creator) - Churchill Hospital
N.T. Young (Author/Creator) - John Radcliffe Hospital
C. Pigott (Author/Creator) - Churchill Hospital
S.V. Fuggle (Author/Creator) - Churchill Hospital
M.C.N.M. Barnardo (Author/Creator)
S.E. Marshall (Author/Creator) - Churchill Hospital
M. Bunce (Author/Creator) - Churchill Hospital
Publication Details: Tissue Antigens, Vol.60(6), pp.481-488
Publisher: Blackwell Publishing
Identifiers: 991005543513707891
Copyright: © Blackwell Munksgaard 2002
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

36 Record Views

16 Times Cited - Web of Science

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Citation topics: 1 Clinical & Life Sciences; 1.184 Physiology & Metals; 1.184.573 Iron Metabolism
Web Of Science research areas: Cell Biology; Immunology; Pathology
ESI research areas: Molecular Biology & Genetics