Genotype-Phenotype Relationship in Hereditary Haemochromatosis

Genotype-Phenotype Relationship in Hereditary Haemochromatosis

The majority of patients of northern European descent with Hereditary Hemochromatosis are homozygous for the C282Y mutation in the HFE gene product. A significant proportion of patients with this genotype have elevated iron indices, however most will not develop symptoms or organ damage. Age, gender...

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Bibliographic Details
Main Authors: Ayres, Lachlan, Jayasekeran, Vanoo, Olynyk, John
Format: Book Chapter
Published: John Wiley & Sons, Inc 2013
Subjects:
Hereditary Hemochromatosis
phlebotomy
C282Y
ferritin
HFE
clinical penetrance
H63D
transferrin saturation
iron overload
phenotype
genotype
fibrosis
venesection
cirrhosis
Online Access:http://hdl.handle.net/20.500.11937/18638

Internet

http://hdl.handle.net/20.500.11937/18638

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