An elevated transferrin saturation is the earliest phenotypic abnormality in hereditary hemochromatosis.
Determination of transferrin saturation remains the most useful noninvasive screening test for affected individuals, but there is debate as to the appropriate screening level.
The aims of this study were to estimate the mean transferrin saturation in hemochromatosis heterozygotes and normal individuals and to evaluate potential transferrin saturation screening levels.
Statistical mixture modeling was applied to data from a survey of asymptomatic Australians to estimate the mean transferrin saturation in hemochromatosis heterozygotes and normal individuals.
To evaluate potential transferrin saturation screening levels, modeling results were compared with data from identified hemochromatosis heterozygotes and homozygotes.
After removal of hemochromatosis homozygotes, two populations of transferrin saturation were identified in asymptomatic Australians (P<0.01).
In men, 88.2% of the truncated sample had a lower mean transferrin saturation of 24.1%, whereas 11.8% had an increased mean transferrin saturation of 37.3%. Similar results were found in women.
A transferrin saturation threshold of 45% identified 98% of homozygotes without misidentifying any normal individuals. (...)
Mots-clés Pascal : Hémochromatose, Maladie héréditaire, Diagnostic, Mesure, Saturation, Transferrine, Dépistage, Limite détection, Etude statistique, Animal, Australie, Océanie, Fer, Métabolisme pathologie, Enzymopathie
Mots-clés Pascal anglais : Hemochromatosis, Genetic disease, Diagnosis, Measurement, Saturation, Transferrin, Medical screening, Detection limit, Statistical study, Animal, Australia, Oceania, Iron, Metabolic diseases, Enzymopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0155368
Code Inist : 002B22E03. Création : 21/07/1998.