原创力文档HFE-Related Hemochromatosis The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.pdfVIP
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HFE-Related Hemochromatosis The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.pdf
Hindawi Publishing Corporation
Advances in Hematology
Volume 2009, Article ID 251701, 6 pages
doi:10.1155/2009/251701
Research Article
HFE -Related Hemochromatosis: The Haptoglobin 2-2 Type Has
a Significant but Limited Influence on Phenotypic Expression of
the Predominant p.C282Y Homozygous Genotype
´ 1, 2, 3 1, 2, 3 1, 2 1
Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert,
1 1 1, 2 ´ 1, 2, 3, 4
Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, and Claude Ferec
1 Etablissement Franc¸ais du Sang Bretagne, Brest 29200, France
2 Inserm, U613, Brest 29200, France
3 Laboratoire de Genetique Moleculaire et d’Histocompatibilite, Hopital Morvan, Centre Hospitalier Universitaire de Brest,
´ ´ ´ ´ ˆ
Brest 29200, France
4 Faculte de Medecine de Brest et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest 29200, France
´ ´ ´ ´
´
Correspondence should be addressed to Gerald Le Gac, gerald.legac@univ-brest.fr
Received 29 October 2008; Revised 4 May 2009; Accepted 7 October 2009
Recommended by Abdullah Kutlar
Phenotypic expression of the common p.C282Y/p.C282Y HFE-related hemochromatosis genotype is heterogeneous and depends
on a complex interplay of genetic and non-genetic factors. Haptoglobin has a crucial role in free hemoglobin iron recovery, and
exists as thr
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