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Blood, 15 April 2005, Vol. 105, No. 8, pp. 3353-3355. Prepublished online as a Blood First Edition Paper on December 21, 2004; DOI 10.1182/blood-2004-07-2814. This Article Full Text (PDF) All Versions of this Article: 2004-07-2814v1 105/8/3353    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Tolosano, E. Articles by Pietrangelo, A. Search for Related Content PubMed PubMed Citation Articles by Tolosano, E. Articles by Pietrangelo, A. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted July 21, 2004 Accepted December 14, 2004 Haptoglobin modifies the hemochromatosis phenotype in mice Emanuela Tolosano*, Sharmila Fagoonee, Cinzia Garuti, Linda Valli, Nancy C Andrews, Fiorella Altruda, and Antonello Pietrangelo Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy; Experimental Medicine Research Center, San Giovanni Battista Hospital, Turin, Italy Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy Division of Hematology/Oncology, Children's Hospital Boston, Boston, MA, USA; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA * Corresponding author; email: emanuela.tolosano{at}unito.it. Classic hereditary hemochromatosis (HH) is a common genetic disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, the clinical penetrance of the disease is low suggesting that the HFE mutation is a necessary but not sufficient cause of clinical HH. Several candidate modifier genes have been proposed in mice and humans, including haptoglobin. Haptoglobin is the plasma protein with the highest binding affinity for hemoglobin. It delivers free plasma hemoglobin to the reticulo-endothelial system, thus reducing loss of hemoglobin through the glomeruli and allowing heme-iron recycling. To gain insight into the role of haptoglobin as a modifier gene in HH, we used Hfe and haptoglobin double null mice. Here, we show that Hfe and haptoglobin compound mutant mice accumulate significantly less hepatic iron than Hfe-null mice, thus demonstrating that haptoglobin-mediated heme-iron recovery may contribute significantly to iron loading in HH. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. W. Swinkels, M. C.H. Janssen, J. Bergmans, and J. J.M. Marx Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches Clin. Chem., June 1, 2006; 52(6): 950 - 968. [Abstract] [Full Text] [PDF] C. Camaschella Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Blood, December 1, 2005; 106(12): 3710 - 3717. [Abstract] [Full Text] [PDF]

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