Interest in including screening for hemochromatosis in the routine medical care of adults has grown in recent years.
In March 1997, at a meeting on iron overload at the Centers for Disease Control and Prevention, the directors of four hemochromatosis screening programs described the major challenges that they faced and the lessons that they learned in implementing their programs.
Seven issues were consistently described as important challenges : 1) changes in case definitions of hemochromatosis, 2) selection of screening threshold values and identification of false-positive cases, 3) variability and lack of standardization in screening test measurements, 4) physician education, 5) informed consent and concerns about medical and genetic discrimination, 6) patient compliance with screening and therapy, and 7) incidental detection of iron deficiency.
The two programs that have been completed report a prevalence of iron overload from hemochromatosis of 4.2 to 4.5 per 1000 persons screened ; this is consistent with findings in the recent literature.
All programs report that screening is feasible and propose that hemochromatosis be defined by repeated elevated serum transferrin saturation values (with or without DNA test results) rather than by the clinical outcome of excessive iron in tissue.
The goal of screening programs is to diagnose iron status disorders, particularly hemochromatosis, before they lead to iron overload and chronic disease states. (...)
Mots-clés Pascal : Hémochromatose, Dépistage, Programme application, Définition, Critère sélection, Faux positif, Transferrine, Saturation, Consentement éclairé, Expression génique, Traitement, Homme, Soin santé primaire, Etats Unis, Amérique du Nord, Amérique, Fer, Métabolisme pathologie, Enzymopathie, Biologie moléculaire, Déterminisme génétique, Organisation santé
Mots-clés Pascal anglais : Hemochromatosis, Medical screening, Application program, Definition, Selection criterion, False positive, Transferrin, Saturation, Informed consent, Gene expression, Treatment, Human, Primary health care, United States, North America, America, Iron, Metabolic diseases, Enzymopathy, Molecular biology, Genetic determinism, Public health organization
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0018623
Code Inist : 002B22E03. Création : 31/05/1999.