These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
    Author: Le Gac G, Gourlaouen I, Ronsin C, Géromel V, Bourgarit A, Parquet N, Quemener S, Le Maréchal C, Chen JM, Férec C.
    Journal: Blood; 2008 Dec 15; 112(13):5238-40. PubMed ID: 18809761.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]