[Hereditary hemocromatosis].
Hereditary hemochromatosis is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for the detection of subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of hereditary hemochromatosis. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.
Franchini
Massimo
M
Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera, Verona. massimo.franchini@mail.azosp.vr.it
Veneri
Dino
D
D000293:Adolescent; D000328:Adult; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008017:Life Expectancy; D008875:Middle Aged; D009154:Mutation; D018962:Phlebotomy; D014168:Transferrin / Q000032:analysis
D014168:Transferrin; D005293:Ferritins