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Titolo:
HFE mutations, iron deficiency and overload in 10 500 blood donors
Autore:
Jackson, HA; Carter, K; Darke, C; Guttridge, MG; Ravine, D; Hutton, RD; Napier, JA; Worwood, M;
Indirizzi:
Univ Wales Coll Cardiff, Coll Med, Dept Haematol, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Cardiff Cardiff S Glam Wales CF14 4XN 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XW, S Glam, Wales Univ WalesHosp Cardiff S Glam Wales CF4 4XW rdiff CF4 4XW, S Glam, Wales Welsh Blood Serv, Pontyclun, Wales Welsh Blood Serv Pontyclun WalesWelsh Blood Serv, Pontyclun, Wales
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 2, volume: 114, anno: 2001,
pagine: 474 - 484
SICI:
0007-1048(200108)114:2<474:HMIDAO>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEMOCHROMATOSIS GENE-MUTATIONS; HEREDITARY HEMOCHROMATOSIS; TRANSFERRIN SATURATION; C282Y MUTATION; SERUM FERRITIN; BINDING-CAPACITY; POPULATION; PREVALENCE; EXPRESSION; STORES;
Keywords:
blood donation; HFE mutations; iron deficiency; iron overload; population screening;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
61
Recensione:
Indirizzi per estratti:
Indirizzo: Worwood, M Univ Wales Coll Cardiff, Coll Med, Dept Haematol, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Cardiff Cardiff S Glam Wales CF14 4XN m, Wales
Citazione:
H.A. Jackson et al., "HFE mutations, iron deficiency and overload in 10 500 blood donors", BR J HAEM, 114(2), 2001, pp. 474-484

Abstract

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 about1 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 allelefrequencies 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 in4.2 donors, and 1 in 42 were compound heterozygotes. Homozygosity for H63Doccurred in I in 42 donors and I 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, H63Dhomozygotes, 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 donorsfailing the screening test for anaemia or of those with sFn < 15 <mu>g/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 thandonors 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 forC282Y 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/08/20 alle ore 07:05:52