Article
[HFE hemochromatosis: pathogenic and diagnostic approach].
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine - 1 Jun 2005
Brissot P, Le Lan C, Troadec M B, Lorho R, Ropert M, Lescoat G, Loréal O
Abstract excerpt
HFE hemochromatosis is the most frequent genetic iron overload disease. It is linked to the C282Y mutation of the HFE protein, protein encoded by the HFE gene, which is located on chromosome 6. The mechanisms accounting for iron excess are not only digestive hyperabsorption of iron but also excessive recycling of macrophagic iron coming from erythrophagocytosis and secreted into the blood. Both mechanisms are...
Topics
- Amino Acid Substitution
- Animals
- Antimicrobial Cationic Peptides
- Chromosomes, Human, Pair 6
- DNA Mutational Analysis
- Diagnosis, Differential
- Duodenum
- Gene Expression Regulation
- Hemochromatosis
- Hemochromatosis Protein