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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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RED CELLS

Brief report

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

Gérald Le Gac1,2,3,4, Isabelle Gourlaouen1,2,3,4, Christophe Ronsin5, Vanna Géromel5, Anne Bourgarit6, Nathalie Parquet6, Sylvia Quemener1,2,3,4, Cédric Le Maréchal1,2,3,4, Jian-Min Chen1,2,3,4, and Claude Férec1,2,3,4

1 Inserm U613, Brest, France; 2 Etablissement Français du Sang–Bretagne, Brest, F-29200 France; 3 Faculté de Médecine de Brest et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France; 4 Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Universitaire de Brest, Hôpital Morvan, Brest, France; 5 Laboratoire Claude Levy, service de biologie moléculaire, Ivry-sur-Seine, France; and 6 Hôpital Saint-Louis, Paris, France

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]



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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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