Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease.
The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis.
In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing.
Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes.
Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes ; the accuracy of genetic testing ; and the ethical, legal, and social effects of genetic testing.
Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution.
Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. (...)
Mots-clés Pascal : Hémochromatose, Dépistage, Evaluation, Fer, Surcharge, Maladie héréditaire, Méthodologie, Recommandation, Homme, Etats Unis, Amérique du Nord, Amérique, Métabolisme pathologie, Enzymopathie, Biologie moléculaire, Génétique
Mots-clés Pascal anglais : Hemochromatosis, Medical screening, Evaluation, Iron, Overload, Genetic disease, Methodology, Recommendation, Human, United States, North America, America, Metabolic diseases, Enzymopathy, Molecular biology, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0019435
Code Inist : 002B22E03. Création : 31/05/1999.