Document Detail


HFE mutations, iron deficiency and overload in 10,500 blood donors.
MedLine Citation:
PMID:  11529872     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
People with genetic haemochromatosis (GH) accumulate iron from excessive dietary absorption. In populations of northern European origin, over 90% of patients are homozygous for the C282Y mutation of the HFE gene. While about 1 in 200 people in the general population have this genotype the proportion who develop clinical haemochromatosis is not known. The influence of HFE genotype on iron status was investigated in 10 556 blood donors. The allele frequencies of the C282Y and H63D mutations were 8.23% and 15.3% respectively. Heterozygosity for C282Y occurred in 1 in 7.9 donors, for H63D in 1 in 4.2 donors, and 1 in 42 were compound heterozygotes. Homozygosity for H63D occurred in 1 in 42 donors and 1 in 147 (72) were homozygous for C282Y. Mean values increased for transferrin saturation (TS) and serum ferritin (sFn), and decreased for unsaturated iron binding capacity (UIBC) in the order: donors lacking the mutations, H63D heterozygotes, C282Y heterozygotes, H63D homozygotes, compound heterozygotes and C282Y homozygotes, but serum ferritin (sFn) concentrations were no higher in H63D heterozygotes and C282Y heterozygous women than in donors lacking mutations. The percentage of donors failing the screening test for anaemia or of those with sFn < 15 microg/l did not differ among the genotype groups. C282Y and H63D heterozygotes and donors homozygous for H63D were at no greater risk of iron accumulation than donors lacking mutations, of whom 1 in 1200 had both a raised TS and sFn. The risk was higher for compound heterozygotes (1 in 80, P = 0.003) and for C282Y homozygotes (1 in 5, P < 0.0001). There was no correlation between sFn and either age or donation frequency in C282Y homozygotes. None of the 63 C282Y homozygous donors interviewed showed physical signs of overload or were aware of relatives with haemochromatosis. The Welsh Blood Service collects blood from about 140 000 people each year including an estimated 950 who are homozygous for HFE C282Y. They are probably healthy and unaware of any family history of iron overload.
Authors:
H A Jackson; K Carter; C Darke; M G Guttridge; D Ravine; R D Hutton; J A Napier; M Worwood
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  114     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-08-31     Completed Date:  2001-09-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  474-84     Citation Subset:  IM    
Affiliation:
Department of Haematology, University of Wales College of Medicine and University Hospital of Wales, Cardiff, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Anemia, Iron-Deficiency / genetics*
Blood Donors*
Cohort Studies
Female
Genotype
HLA Antigens / genetics*
Hemochromatosis / blood,  genetics*
Heterozygote
Histocompatibility Antigens Class I / genetics*
Humans
Iron / blood
Iron Overload / genetics*
Male
Membrane Proteins*
Mutation
Regression Analysis
Wales
Chemical
Reg. No./Substance:
0/HFE protein, human; 0/HLA Antigens; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 7439-89-6/Iron

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