Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

• Type: Article in International Scientific Journal
• Date: 2002

Authors

Mattman, A (Author) Other; Huntsman, D (Author) Other; Lockitch, G (Author) Other; Langlois, S (Author) Other; Buskard, N (Author) Other; Ralston, D (Author) Other; Butterfield, Y (Author) Other; Rodrigues, P (Author) ICBAS; Jones, S (Author) Other; Porto, G (Author) ICBAS; Marra, M (Author) Other; De Sousa, M (Author) Other; Vatcher, G (Author) Other

Journal

Title: Blood

Vol. 100

Pages: 1075-1077

ISSN: 0006-4971

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 81 Citations

Scopus - 98 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-000-NDA

DOI: 10.1182/blood-2002-01-0133

Abstract (EN): Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. NonC282Y 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 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 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. (C) 2002 by The American Society of Hematology.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3