作者
Paul Clark, Laurence J Britton, Lawrie W Powell
发表日期
2010/2
来源
The Clinical Biochemist Reviews
卷号
31
期号
1
页码范围
3
出版商
Australasian Association for Clinical Biochemistry and Laboratory Medicine
简介
Hereditary haemochromatosis (HH) is a common genetic disorder of iron metabolism in individuals of Northern European ancestry which leads to inappropriate iron absorption from the intestine and iron overload in susceptible individuals. Iron overload is suggested by elevations in serum ferritin and transferrin saturation. The majority of patients with clinically significant iron overload are homozygous for the C282Y mutation of the HFE gene, however only a minority of C282Y homozygotes fully express the disease clinically. Those with a high serum ferritin (> 1000 μg/L) and additional hepatic insults from cofactors are more likely to develop cirrhosis and its complications. The mainstay of treatment is venesection. Those without cirrhosis who undergo appropriate venesection have a normal life expectancy. Family screening is recommended for all first degree relatives of an individual with the disease.
引用总数
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学术搜索中的文章
P Clark, LJ Britton, LW Powell - The Clinical Biochemist Reviews, 2010