HFE-Associated Hereditary Haemochromatosis
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosi...
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| Format: | Article |
| Language: | English |
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Wiley
2000-01-01
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| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2000/360372 |
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| _version_ | 1832563865260392448 |
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| author | Emmeke J Eijkelkamp Thomas R Yapp Lawrie W Powell |
| author_facet | Emmeke J Eijkelkamp Thomas R Yapp Lawrie W Powell |
| author_sort | Emmeke J Eijkelkamp |
| collection | DOAJ |
| description | Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload. |
| format | Article |
| id | doaj-art-c27db035815b4434a63c5a756a468de3 |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2000-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-c27db035815b4434a63c5a756a468de32025-02-03T01:12:28ZengWileyCanadian Journal of Gastroenterology0835-79002000-01-0114212112510.1155/2000/360372HFE-Associated Hereditary HaemochromatosisEmmeke J Eijkelkamp0Thomas R Yapp1Lawrie W Powell2The International School of Hepatology and Tropical Medicine GISH-T, University of Groningen, NetherlandsJoint Clinical Sciences Program, The Queensland Institute of Medical Research and Department of Medicine, The University of Queensland, Brisbane, AustraliaJoint Clinical Sciences Program, The Queensland Institute of Medical Research and Department of Medicine, The University of Queensland, Brisbane, AustraliaHereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload.http://dx.doi.org/10.1155/2000/360372 |
| spellingShingle | Emmeke J Eijkelkamp Thomas R Yapp Lawrie W Powell HFE-Associated Hereditary Haemochromatosis Canadian Journal of Gastroenterology |
| title | HFE-Associated Hereditary Haemochromatosis |
| title_full | HFE-Associated Hereditary Haemochromatosis |
| title_fullStr | HFE-Associated Hereditary Haemochromatosis |
| title_full_unstemmed | HFE-Associated Hereditary Haemochromatosis |
| title_short | HFE-Associated Hereditary Haemochromatosis |
| title_sort | hfe associated hereditary haemochromatosis |
| url | http://dx.doi.org/10.1155/2000/360372 |
| work_keys_str_mv | AT emmekejeijkelkamp hfeassociatedhereditaryhaemochromatosis AT thomasryapp hfeassociatedhereditaryhaemochromatosis AT lawriewpowell hfeassociatedhereditaryhaemochromatosis |