{"title":"Haemochromatosis and HFE gene.","authors":"R Moirand, Y Deugnier, P Brissot","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The discovery of the HFE gene has improved classification and diagnosis of iron overload. Most patients with a phenotypic diagnosis of haemochromatosis are homozygote for the C282Y mutation. Among those with other genotypes, only compound heterozygotes, who present the C282Y mutation on one chromosome and the H63D on the other, may present with haemochromatosis, but with a low penetrance and a mild expression. Other patients usually present with another cause of iron overload, such as insulin resistance, alcoholic liver disease or liver cirrhosis. The practical management of haemochromatosis has been greatly modified, since liver biopsy is no more necessary for diagnosis in C282Y homozygotes, and is only needed for exclusion of cirrhosis. Family screening has also greatly benefited from genotyping.</p>","PeriodicalId":50942,"journal":{"name":"Acta Gastro-Enterologica Belgica","volume":"62 4","pages":"403-9"},"PeriodicalIF":1.5000,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Gastro-Enterologica Belgica","FirstCategoryId":"3","ListUrlMain":"","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The discovery of the HFE gene has improved classification and diagnosis of iron overload. Most patients with a phenotypic diagnosis of haemochromatosis are homozygote for the C282Y mutation. Among those with other genotypes, only compound heterozygotes, who present the C282Y mutation on one chromosome and the H63D on the other, may present with haemochromatosis, but with a low penetrance and a mild expression. Other patients usually present with another cause of iron overload, such as insulin resistance, alcoholic liver disease or liver cirrhosis. The practical management of haemochromatosis has been greatly modified, since liver biopsy is no more necessary for diagnosis in C282Y homozygotes, and is only needed for exclusion of cirrhosis. Family screening has also greatly benefited from genotyping.
期刊介绍：
The Journal Acta Gastro-Enterologica Belgica principally publishes peer-reviewed original manuscripts, reviews, letters to editors, book reviews and guidelines in the field of clinical Gastroenterology and Hepatology, including digestive oncology, digestive pathology, as well as nutrition. Pure animal or in vitro work will not be considered for publication in the Journal. Translational research papers (including sections of animal or in vitro work) are considered by the Journal if they have a clear relationship to or relevance for clinical hepato-gastroenterology (screening, disease mechanisms and/or new therapies). Case reports and clinical images will be accepted if they represent an important contribution to the description, the pathogenesis or the treatment of a specific gastroenterology or liver problem. The language of the Journal is English. Papers from any country will be considered for publication. Manuscripts submitted to the Journal should not have been published previously (in English or any other language), nor should they be under consideration for publication elsewhere. Unsolicited papers are peer-reviewed before it is decided whether they should be accepted, rejected, or returned for revision. Manuscripts that do not meet the presentation criteria (as indicated below) will be returned to the authors. Papers that go too far beyond the scope of the journal will be also returned to the authors by the editorial board generally within 2 weeks. The Journal reserves the right to edit the language of papers accepted for publication for clarity and correctness, and to make formal changes to ensure compliance with AGEB’s style. Authors have the opportunity to review such changes in the proofs.
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