Role of genetic testing and liver biopsy in the diagnosis of hemochromatosis.

被引：5

作者：

Adams P.C. ^{[1
]}

机构：

[1] Department of Medicine, London Health Sciences Center, University Campus, PO Box 5339, London Ontario

来源：

Current Gastroenterology Reports | 1999年 / 1卷 / 1期

关键词：

Ferritin; Liver Biopsy; Iron Overload; Hemochromatosis; Serum Ferritin Level;

D O I：

10.1007/s11894-999-0083-6

中图分类号：

学科分类号：

摘要：

Hemochromatosis is the most common genetic disease affecting people of northern European ancestry. However, the disease is overdiagnosed in patients who do not have the disease and underdiagnosed in those with the disease. Although liver biopsy has been the standard diagnostic test for hemochromatosis, a new genetic blood test for a missense mutation (C282Y) of the HFE gene on chromosome 6 now provides a powerful noninvasive method of diagnosis. The clinical implications of this new genetic blood test compared with conventional liver biopsy in the diagnosis of hemochromatosis are discussed in this article.

引用

页码：27 / 29

页数：2

共 53 条

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