Hematology. 2005 Apr;10(2):145-9.

Hereditary hemochromatosis.

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Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera di Verona, Verona, Italy. massimo.franchini@mail.azosp.vr.it

Abstract

Hereditary hemochromatosis (HH) 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 HH. Therapeutic phlebotomy is the mainstay of the treatment of HH. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.

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