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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 (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 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. Social Bookmarking                   What's this? Submitted January 17, 2002 Accepted March 25, 2002 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, Graca Porto, Marco Marra, Maria De Sousa, and Greg Vatcher Genes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada Genes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada; Department of Pathology, British Columbia Cancer Agency, Vanouver, British Columbia, Canada; Vancouver General Hospital, Vancouver, British Columbia, Canada Department of Pathology, British Columbia Cancer Agency, Vanouver, British Columbia, Canada British Columbia Genome Sequencing Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada Instituto de Biologia Molecular e Celular, Porto, Portugal; Instituto de Ciencias Biomedicas Abel Salazar, Porto, Portugal Instituto de Biologia Molecular e Celular, Porto, Portugal; Instituto de Ciencias Biomedicas Abel Salazar, Porto, Portugal; Hospital Geral de Santo António, Porto, Portugal * Corresponding author; email: amattman{at}cw.bc.ca. 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 four 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, c.2069 A->C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and two 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. 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