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Hemochromatosis gene in leukemia and lymphoma

Lookup NU author(s): Dr Tevfik Dorak


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The gene causing hereditary hemochromatosis (HH), HFE is an HLA class I-like gene with no known immunological function but indirectly related to the immune functions because of its role in iron transport. It is located 6.5 Mb telomeric to HLA-A. The most common mutation of HFE, C282Y, has a Celtic origin and most patients with HH are homozygous for it in Northern European populations. While there is an enormously increased risk for hepatocellular cancer in hemochromatosis that is attributed to the toxic effects of iron, the risk for extra-hepatic cancers is also increased slightly. Recent studies have found genetic associations between several cancers and C282Y but only in the presence of a particular allele of the transferrin receptor gene. This suggests that the increased cancer risk is more likely due to the effects of iron. In childhood acute lymphoblastic leukemia (ALL), however, there is a strong association of C282Y with a gender effect in two different Celtic populations. This association does not require homozygosity for C282Y or an interaction with the transferrin receptor gene, and is male-specific. The other HFE mutation H63D does not confer increased risk to childhood ALL. Acute myeloblastic leukemia and Hodgkin's disease in adults do not have an association with HFE. Its male-specificity, occurrence in childhood and the lack of a gene-dosage effect suggest that the C282Y association in childhood ALL may reflect the involvement of another HLA-linked gene in leukemia susceptibility.

Publication metadata

Author(s): Dorak MT; Burnett AK; Worwood M

Publication type: Article

Publication status: Published

Journal: Leukemia and Lymphoma

Year: 2002

Volume: 43

Issue: 3

Pages: 467-477

ISSN (print): 1042-8194

ISSN (electronic): 1029-2403

Publisher: Informa Healthcare


DOI: 10.1080/10428190290011930

PubMed id: 12002748


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