Annals of Hematology

, Volume 84, Issue 6, pp 347–352

Recent advances in hereditary hemochromatosis

Review Article

DOI: 10.1007/s00277-005-1006-8

Cite this article as:
Franchini, M. & Veneri, D. Ann Hematol (2005) 84: 347. doi:10.1007/s00277-005-1006-8

Abstract

Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated in a timely manner. Recent developments in the field of molecular medicine have radically improved the understanding of the physiopathology and diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for identifying subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of this disease and the life expectancy of these patients is similar to that of the normal population if phlebotomy is started before the onset of irreversible organ damage. In this review we discuss the genetics, pathophysiology, diagnosis, clinical features, and management of hereditary hemochromatosis.

Keywords

Iron overloadHemochromatosisGeneticsHFE gene

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  1. 1.Servizio di Immunoematologia e TrasfusioneAzienda Ospedaliera di VeronaVeronaItaly
  2. 2.Dipartimento di Medicina Clinica e Sperimentale, Sezione di EmatologiaUniversità di VeronaVeronaItaly
  3. 3.Servizio di Immunoematologia e TrasfusioneOspedale PoliclinicoVeronaItaly