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 Blood, 15 December 2008, Vol. 112, No. 13, pp. 5238-5240.
Prepublished online as a Blood First Edition Paper on September 22, 2008; DOI 10.1182/blood-2008-07-167296.

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Submitted July 9, 2008
Accepted August 27, 2008

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

Gerald Le Gac*, Isabelle Gourlaouen, Christophe Ronsin, Vanna Geromel, Anne Bourgarit, Nathalie Parquet, Sylvia Quemener, Cedric Le Marechal, Jian-Min Chen, and Claude Ferec

Inserm U613, Etablissement Francais du Sang - Bretagne, Universite de Bretagne Occidentale, F-29200, Brest, France
LCL, service de biologie moleculaire, F-94208, Ivry-sur-Seine, France
Hopital Saint-Louis, F-75010, Paris, France

* Corresponding author; email: gerald.legac{at}univ-brest.fr.

Hemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is carried by approximately 1 person in 200 in Northern European populations. However, p.C282Y homozygosity is often characterized by incomplete penetrance. Here, we describe the case of a woman who had a major structural alteration in the HFE gene. Molecular characterization revealed an Alu-mediated recombination leading to the loss of the entire HFE gene sequence. Although homozygous for the HFE deleted allele, the woman had a phenotype similar to that seen in most women homozygous for the common p.C282Y mutation. Contrasting with previously reported results in Hfe knockout and Hfe knockin mice, our report gives further evidence that progression of the disease depends on modifying factors.


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Related Article in Blood Online:

Homozygous deletion of HFE: the Sardinian hemochromatosis?
Sara Pelucchi, Raffaella Mariani, Francesca Bertola, Cristina Arosio, and Alberto Piperno
Blood 2009 113: 3886. [Full Text] [PDF]



This article has been cited by other articles:


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S. Pelucchi, R. Mariani, F. Bertola, C. Arosio, and A. Piperno
Homozygous deletion of HFE: the Sardinian hemochromatosis?
Blood, April 16, 2009; 113(16): 3886 - 3886.
[Full Text] [PDF]


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