Genetics of hereditary hemochromatosis: A clinical perspective
Hereditary hemochromatosis due to homozygosity for the C282Y mutation in the HFE gene product is the most common autosomal recessive genetic disorder in populations of northern European descent, where it attains a maximum prevalence of approximately one in 200. Cross-sectional and longitudinal studi...
| Main Authors: | , , , |
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| Format: | Journal Article |
| Published: |
2009
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| Online Access: | http://hdl.handle.net/20.500.11937/45632 |
| _version_ | 1848757339671232512 |
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| author | Gan, E. Trinder, D. Ayonrinde, Oyekoya Olynyk, John |
| author_facet | Gan, E. Trinder, D. Ayonrinde, Oyekoya Olynyk, John |
| author_sort | Gan, E. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Hereditary hemochromatosis due to homozygosity for the C282Y mutation in the HFE gene product is the most common autosomal recessive genetic disorder in populations of northern European descent, where it attains a maximum prevalence of approximately one in 200. Cross-sectional and longitudinal studies have revealed that clinically significant iron-overload disease develops in at least 28% of male and 1% of female HFE C282Y homozygotes. The relatively low clinical penetrance is largely unexplained. Current evidence suggests a limited role for digenic inheritance of mutations in iron homeostasis genes in modifying the penetrance of hemochromatosis. Male gender is a strong genetic factor, promoting expression of clinical disease. Dietary intake of alcohol and noncitrus fruit may also act as important environmental modifiers of penetrance. With genetic analyses becoming simpler to perform, new genetic modifiers of hepatic iron loading and liver fibrogenesis are likely to be forthcoming. © 2009 Expert Reviews Ltd. |
| first_indexed | 2025-11-14T09:26:32Z |
| format | Journal Article |
| id | curtin-20.500.11937-45632 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:26:32Z |
| publishDate | 2009 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-456322017-09-13T14:26:49Z Genetics of hereditary hemochromatosis: A clinical perspective Gan, E. Trinder, D. Ayonrinde, Oyekoya Olynyk, John Hereditary hemochromatosis due to homozygosity for the C282Y mutation in the HFE gene product is the most common autosomal recessive genetic disorder in populations of northern European descent, where it attains a maximum prevalence of approximately one in 200. Cross-sectional and longitudinal studies have revealed that clinically significant iron-overload disease develops in at least 28% of male and 1% of female HFE C282Y homozygotes. The relatively low clinical penetrance is largely unexplained. Current evidence suggests a limited role for digenic inheritance of mutations in iron homeostasis genes in modifying the penetrance of hemochromatosis. Male gender is a strong genetic factor, promoting expression of clinical disease. Dietary intake of alcohol and noncitrus fruit may also act as important environmental modifiers of penetrance. With genetic analyses becoming simpler to perform, new genetic modifiers of hepatic iron loading and liver fibrogenesis are likely to be forthcoming. © 2009 Expert Reviews Ltd. 2009 Journal Article http://hdl.handle.net/20.500.11937/45632 10.1586/eem.09.9 restricted |
| spellingShingle | Gan, E. Trinder, D. Ayonrinde, Oyekoya Olynyk, John Genetics of hereditary hemochromatosis: A clinical perspective |
| title | Genetics of hereditary hemochromatosis: A clinical perspective |
| title_full | Genetics of hereditary hemochromatosis: A clinical perspective |
| title_fullStr | Genetics of hereditary hemochromatosis: A clinical perspective |
| title_full_unstemmed | Genetics of hereditary hemochromatosis: A clinical perspective |
| title_short | Genetics of hereditary hemochromatosis: A clinical perspective |
| title_sort | genetics of hereditary hemochromatosis: a clinical perspective |
| url | http://hdl.handle.net/20.500.11937/45632 |