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Blood, 1 September 2008, Vol. 112, No. 5, pp. 2089-2091. Prepublished online as a Blood First Edition Paper on July 2, 2008; DOI 10.1182/blood-2008-05-154740. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: blood-2008-05-154740v1 112/5/2089    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Guillem, F. Articles by Grandchamp, B. Search for Related Content PubMed PubMed Citation Articles by Guillem, F. Articles by Grandchamp, B. Related Collections Red Cells Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Brief Report Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency Flavia Guillem1, Sarah Lawson2, Caroline Kannengiesser1, Mark Westerman3, Carole Beaumont4, and Bernard Grandchamp1,4 1 Assistance Publique des Hôpitaux de Paris (APHP), Laboratoire de Génétique et Biochimie Hormonale, Hôpital Bichat, Paris, France; 2 Department of Clinical and Biological Haematology, Birmingham Children's Hospital, Birmingham, United Kingdom; 3 Intrinsic LifeSciences, La Jolla, CA; and 4 Inserm U773, Centre de Recherche Biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot, site Bichat, Paris, France Genetic causes of hypochromic microcytic anemia include thalassemias and some rare inherited diseases such as DMT1 deficiency. Here, we show that iron deficiency anemia with poor intestinal absorption and defective iron utilization of IV iron is caused by inherited mutations in TMPRSS6, a liver-expressed gene that encodes a membrane-bound serine protease of previously unknown role that was recently reported to be a regulator of hepcidin expression. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. J. Ramsay, V. Quesada, M. Sanchez, C. Garabaya, M. P. Sarda, M. Baiget, A. Remacha, G. Velasco, and C. Lopez-Otin Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms Hum. Mol. Genet., October 1, 2009; 18(19): 3673 - 3683. [Abstract] [Full Text] [PDF] A. J. Ramsay, J. D. Hooper, A. R. Folgueras, G. Velasco, and C. Lopez-Otin Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis Haematologica, June 1, 2009; 94(6): 840 - 849. [Abstract] [Full Text] [PDF] L. Silvestri, F. Guillem, A. Pagani, A. Nai, C. Oudin, M. Silva, F. Toutain, C. Kannengiesser, C. Beaumont, C. Camaschella, et al. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia Blood, May 28, 2009; 113(22): 5605 - 5608. [Abstract] [Full Text] [PDF] A. Iolascon, L. De Falco, and C. Beaumont Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis Haematologica, March 1, 2009; 94(3): 395 - 408. [Abstract] [Full Text] [PDF] T. Ganz, G. Olbina, D. Girelli, E. Nemeth, and M. Westerman Immunoassay for human serum hepcidin Blood, November 15, 2008; 112(10): 4292 - 4297. [Abstract] [Full Text] [PDF] C. Camaschella and L. Silvestri New and old players in the hepcidin pathway Haematologica, October 1, 2008; 93(10): 1441 - 1444. [Full Text] [PDF]

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