Genotype-Phenotype Relationship in Hereditary Haemochromatosis

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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

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