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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| Format: | Book Chapter |
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John Wiley & Sons, Inc
2013
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| Online Access: | http://hdl.handle.net/20.500.11937/18638 |
| _version_ | 1848749802252140544 |
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| author | Ayres, Lachlan Jayasekeran, Vanoo Olynyk, John |
| author_facet | Ayres, Lachlan Jayasekeran, Vanoo Olynyk, John |
| author_sort | Ayres, Lachlan |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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 and alcohol are the key factors known to influence this wide variation in clinical penetrance. We describe the three stages of disease ranging from genetic abnormality-only through to overt disease, and review the other factors which modify the genotype-phenotype relationship. Algorithms for use in clinical practice are included to aid clinicians in diagnosis, risk stratification and treatment. |
| first_indexed | 2025-11-14T07:26:43Z |
| format | Book Chapter |
| id | curtin-20.500.11937-18638 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T07:26:43Z |
| publishDate | 2013 |
| publisher | John Wiley & Sons, Inc |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-186382017-09-13T13:45:16Z Genotype-Phenotype Relationship in Hereditary Haemochromatosis Ayres, Lachlan Jayasekeran, Vanoo Olynyk, John Hereditary Hemochromatosis phlebotomy C282Y ferritin HFE clinical penetrance H63D transferrin saturation iron overload phenotype genotype fibrosis venesection cirrhosis 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 and alcohol are the key factors known to influence this wide variation in clinical penetrance. We describe the three stages of disease ranging from genetic abnormality-only through to overt disease, and review the other factors which modify the genotype-phenotype relationship. Algorithms for use in clinical practice are included to aid clinicians in diagnosis, risk stratification and treatment. 2013 Book Chapter http://hdl.handle.net/20.500.11937/18638 10.1002/9780470015902.a0024259 John Wiley & Sons, Inc restricted |
| spellingShingle | Hereditary Hemochromatosis phlebotomy C282Y ferritin HFE clinical penetrance H63D transferrin saturation iron overload phenotype genotype fibrosis venesection cirrhosis Ayres, Lachlan Jayasekeran, Vanoo Olynyk, John Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title | Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title_full | Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title_fullStr | Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title_full_unstemmed | Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title_short | Genotype-Phenotype Relationship in Hereditary Haemochromatosis |
| title_sort | genotype-phenotype relationship in hereditary haemochromatosis |
| topic | Hereditary Hemochromatosis phlebotomy C282Y ferritin HFE clinical penetrance H63D transferrin saturation iron overload phenotype genotype fibrosis venesection cirrhosis |
| url | http://hdl.handle.net/20.500.11937/18638 |