HFE-Related Hemochromatosis : The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype
Joint Authors
Le Gac, Gérald
Ka, Chandran
Chanu, Brigitte
Mercier, Anne-Yvonne
Gourlaouen, Isabelle
Bryckaert, Laurence
Scotet, Virginie
Férec, Claude
Source
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-11-05
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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 three major types: Hp1-1, Hp2-1 and Hp2-2.
Hp2-2 favors endocytosis of hemoglobin iron in monocytes/macrophages, resulting in partial iron retention and increased intracellular ferritin levels.
This situation is generally not expected to severely affect iron homeostasis, but was found to correlate with elevated serum iron indices in healthy men.
Whether the Hp2-2 genotype acts as a modifier in HFE-related hemochromatosis is unclear.
In this study we investigated influence of Hp2-2 and of potential confounders on the iron indices of 351 p.C282Y homozygous patients.
We conclude that there is a cause-and-effect relationship between the Hp2-2 genotype and increased iron indices in p.C282Y homozygous patients.
The Hp2-2 effect is, however, limited and only apparent in males.
American Psychological Association (APA)
Le Gac, Gérald& Ka, Chandran& Gourlaouen, Isabelle& Bryckaert, Laurence& Mercier, Anne-Yvonne& Chanu, Brigitte…[et al.]. 2009. HFE-Related Hemochromatosis : The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. Advances in Hematology،Vol. 2009, no. 2009, pp.1-6.
https://search.emarefa.net/detail/BIM-457521
Modern Language Association (MLA)
Le Gac, Gérald…[et al.]. HFE-Related Hemochromatosis : The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. Advances in Hematology No. 2009 (2009), pp.1-6.
https://search.emarefa.net/detail/BIM-457521
American Medical Association (AMA)
Le Gac, Gérald& Ka, Chandran& Gourlaouen, Isabelle& Bryckaert, Laurence& Mercier, Anne-Yvonne& Chanu, Brigitte…[et al.]. HFE-Related Hemochromatosis : The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. Advances in Hematology. 2009. Vol. 2009, no. 2009, pp.1-6.
https://search.emarefa.net/detail/BIM-457521
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-457521