The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

High frequencies of the haemochromatosis‐related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes. However, the degree of penetrance of this genotype is unknown. We determined the HFE C282Y and H63D genotypes...

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Veröffentlicht in:	British journal of haematology 1998-05, Vol.101 (2), p.369-373
Hauptverfasser:	Merryweather‐Clarke, Alison T., Worwood, Mark, Parkinson, Lisa, Mattock, Chris, Pointon, Jennifer J., Shearman, Jeremy D., Robson, Kathryn J. H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences C282Y Channel Islands - epidemiology Errors of metabolism Female ferritin Ferritins - blood Genotype haemochromatosis Hematology Hemochromatosis - blood Hemochromatosis - epidemiology Hemochromatosis - genetics HFE Homozygote Humans Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Mutation Penetrance Transferrin - analysis transferrin saturation
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