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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2002-01-0133. This Article Full Text Full Text (PDF) All Versions of this Article: 2002-01-0133v1 100/3/1075    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 Mattman, A. Articles by Vatcher, G. Search for Related Content PubMed PubMed Citation Articles by Mattman, A. Articles by Vatcher, G. Related Collections Red Cells Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 August 2002, Vol. 100, No. 3, pp. 1075-1077 BRIEF REPORT Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation Andre Mattman, David Huntsman, Gillian Lockitch, Sylvie Langlois, Noel Buskard, Diana Ralston, Yaron Butterfield, Pedro Rodrigues, Steven Jones, Graça Porto, Marco Marra, Maria De Sousa, and Greg Vatcher From the Genes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia; the British Columbia Genome Sequencing Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; the Instituto de Ciências Biomedicas Abel Salazar, Hospital Geral de Santo António, and Instituto de Biologia Molecular e Celular, Porto, Portugal; the Vancouver General Hospital, Vancouver, British Columbia, Canada; and the Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within the TfR2 gene, including a homozygous missense change in exon 17, c2069 AC, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. F. Wallace, L. Summerville, E. M. Crampton, and V. N. Subramaniam Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis Am J Physiol Cell Physiol, February 1, 2008; 294(2): C383 - C390. [Abstract] [Full Text] [PDF] S. F. Drake, E. H. Morgan, C. E. Herbison, R. Delima, R. M. Graham, A. C. G. Chua, P. J. Leedman, R. E. Fleming, B. R. Bacon, J. K. Olynyk, et al. Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3 Am J Physiol Gastrointest Liver Physiol, January 1, 2007; 292(1): G323 - G328. [Abstract] [Full Text] [PDF] A. D. Robb, M. 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Chem., December 1, 2003; 49(12): 1981 - 1988. [Abstract] [Full Text] [PDF] S. G. Gehrke, H. Kulaksiz, T. Herrmann, H.-D. Riedel, K. Bents, C. Veltkamp, and W. Stremmel Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron Blood, July 1, 2003; 102(1): 371 - 376. [Abstract] [Full Text] [PDF] W. J.H. Griffiths and T. M. Cox Co-localization of the Mammalian Hemochromatosis Gene Product (HFE) and a Newly Identified Transferrin Receptor (TfR2) in Intestinal Tissue and Cells J. Histochem. Cytochem., May 1, 2003; 51(5): 613 - 624. [Abstract] [Full Text] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020