血色素沉着症
Hemochromatosis.
作者信息
Adams Paul C
机构信息
Department of Medicine, University of Western Ontario, London Health Sciences Centre, University Campus, P.O. Box 5339, London, Ontario N6A 5A5, Canada.
出版信息
Clin Liver Dis. 2004 Nov;8(4):735-53, vii. doi: 10.1016/j.cld.2004.06.002.
PMID:15464653
Abstract
Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life expectancy.
摘要
血色素沉着症是一种常见的遗传病，临床表现范围广泛：从无症状到肝硬化。该基因的发现带来了一种有助于诊断血色素沉着症的基因血液检测方法。通过放血进行治疗简单有效，可预防肝硬化的发展，从而使预期寿命正常。
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