Despite evidence from screening studies in northern European populations, the prevalence of hemochromatosis in primary care populations in the United States remains speculative.
To establish the feasibility of screening for hemochromatosis and to estimate the prevalence of hemochromatosis in a large primary care population.
Cross-sectional prevalence study.
22 primary care practices in the Rochester, New York, area.
16 031 ambulatory patients without a previous diagnosis of hemochromatosis.
Serum transferrin saturation screening tests were offered to all adult patients in participating primary care practices.
Patients with a serum transferrin saturation of 45% or more on initial testing had a serum transferrin saturation test done under fasting conditions and had serum ferritin levels measured.
Those who had a fasting serum transferrin saturation of 55% or more and a serum ferritin level of 200 mug/L or more with no other apparent cause were presumed to have hemochromatosis and were offered liver biopsy to confirm the diagnosis.
25 patients had biopsy-proven hemochromatosis ; 22 patients met the clinical criteria for hemochromatosis but declined liver biopsy and were classified as having clinically proven hemochromatosis ; and 23 patients had a serum transferrin saturation of 55% or more with no identifiable cause, indicating probable hemochromatosis. (...)
Mots-clés Pascal : Hémochromatose, Epidémiologie, Prévalence, Soin santé primaire, Etude transversale, Protocole expérimental, Maladie héréditaire, Homme, Etats Unis, Amérique du Nord, Amérique, Fer, Métabolisme pathologie, Enzymopathie, Génétique
Mots-clés Pascal anglais : Hemochromatosis, Epidemiology, Prevalence, Primary health care, Cross sectional study, Experimental protocol, Genetic disease, Human, United States, North America, America, Iron, Metabolic diseases, Enzymopathy, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0019433
Code Inist : 002B22E03. Création : 31/05/1999.