Recent advances in hereditary hemochromatosis.
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.
Franchini
Massimo
M
Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera di Verona, Verona, Italy.
Veneri
Dino
D
D017668:Age of Onset; D006528:Carcinoma, Hepatocellular / Q000209:etiology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005293:Ferritins / Q000097:blood; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008103:Liver Cirrhosis / Q000097:blood / Q000209:etiology; D008113:Liver Neoplasms / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics; D020125:Mutation, Missense; D018962:Phlebotomy; D017354:Point Mutation; D015995:Prevalence; D014168:Transferrin / Q000032:analysis; D044465:White People / Q000235:genetics
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron