Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity
The syndrome of hepatic cirrhosis diabetes and skin pigmentation (‘Bronze diabetes’) has been well documented, including its propensity to lead to hepatocellular cancer. However, this picture of advanced disease is much less common nowadays with increased awareness and early diagnosis. However, in a...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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European Medical Journal
2015-01-01
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| Series: | European Medical Journal Hepatology |
| Subjects: | |
| Online Access: | http://emjreviews.com/wp-content/uploads/Homozygosity-For-The-C282Y-Substitution-In-The-HFE-Gene-The-Incomplete-Penetrance-And-Variable-Expressivity.pdf |
| _version_ | 1828783500387418112 |
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| author | Dilum Ekanayake Clinton Roddick Murtaza Khanbhai Lawrie W. Powell |
| author_facet | Dilum Ekanayake Clinton Roddick Murtaza Khanbhai Lawrie W. Powell |
| author_sort | Dilum Ekanayake |
| collection | DOAJ |
| description | The syndrome of hepatic cirrhosis diabetes and skin pigmentation (‘Bronze diabetes’) has been well documented, including its propensity to lead to hepatocellular cancer. However, this picture of advanced disease is much less common nowadays with increased awareness and early diagnosis. However, in addition to this, it has been increasingly recognised that in contrast to other diseases inherited as autosomal recessive traits, subjects carrying the genetic predisposition infrequently develop overt disease. This is due only in part to physiological and pathological blood loss, and further relevant genetic mutations have been anticipated. Indeed, an international consortium has recently identified that the genetic variant ( GNPAT ) has been identified as predisposing to iron overload related disease. Further mutations can be anticipated and will assist in early diagnosis and treatment as well as identifying subjects predisposed to significant iron overload. |
| first_indexed | 2024-12-11T22:45:13Z |
| format | Article |
| id | doaj.art-1d91c35ea1d647c7ae82feffcd394e5b |
| institution | Directory Open Access Journal |
| issn | 2053-4221 |
| language | English |
| last_indexed | 2024-12-11T22:45:13Z |
| publishDate | 2015-01-01 |
| publisher | European Medical Journal |
| record_format | Article |
| series | European Medical Journal Hepatology |
| spelling | doaj.art-1d91c35ea1d647c7ae82feffcd394e5b2022-12-22T00:47:38ZengEuropean Medical JournalEuropean Medical Journal Hepatology2053-42212015-01-01317985Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable ExpressivityDilum Ekanayake0Clinton Roddick1Murtaza Khanbhai2Lawrie W. Powell3School of Medicine, The University of Queensland, Brisbane, AustraliaSchool of Medicine, The University of Queensland, Brisbane, AustraliaSchool of Medicine, The University of Queensland, Brisbane, AustraliaSchool of Medicine, The University of Queensland, Brisbane, Australia, Centre for the Advancement of Clinical Research, Royal Brisbane and Women’s Hospital, Brisbane, Australia The syndrome of hepatic cirrhosis diabetes and skin pigmentation (‘Bronze diabetes’) has been well documented, including its propensity to lead to hepatocellular cancer. However, this picture of advanced disease is much less common nowadays with increased awareness and early diagnosis. However, in addition to this, it has been increasingly recognised that in contrast to other diseases inherited as autosomal recessive traits, subjects carrying the genetic predisposition infrequently develop overt disease. This is due only in part to physiological and pathological blood loss, and further relevant genetic mutations have been anticipated. Indeed, an international consortium has recently identified that the genetic variant ( GNPAT ) has been identified as predisposing to iron overload related disease. Further mutations can be anticipated and will assist in early diagnosis and treatment as well as identifying subjects predisposed to significant iron overload.http://emjreviews.com/wp-content/uploads/Homozygosity-For-The-C282Y-Substitution-In-The-HFE-Gene-The-Incomplete-Penetrance-And-Variable-Expressivity.pdfHaemochromatosisHFE haemochromatosisiron metabolismsecondary iron overload |
| spellingShingle | Dilum Ekanayake Clinton Roddick Murtaza Khanbhai Lawrie W. Powell Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity European Medical Journal Hepatology Haemochromatosis HFE haemochromatosis iron metabolism secondary iron overload |
| title | Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity |
| title_full | Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity |
| title_fullStr | Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity |
| title_full_unstemmed | Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity |
| title_short | Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity |
| title_sort | homozygosity for the c282y substitution in the hfe gene the incomplete penetrance and variable expressivity |
| topic | Haemochromatosis HFE haemochromatosis iron metabolism secondary iron overload |
| url | http://emjreviews.com/wp-content/uploads/Homozygosity-For-The-C282Y-Substitution-In-The-HFE-Gene-The-Incomplete-Penetrance-And-Variable-Expressivity.pdf |
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