Aguilar-Martinez Patricia, Lok Chun Yu, Cunat Séverine, Cadet Estelle, Robson Kathryn, Rochette Jacques
Haematologica. 2007 Mar;92(3):421-2. doi: 10.3324/haematol.10701.
During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The possibility of detecting juvenile hemochromatosis before the onset of clinical manifestations raises questions about the management of such young children in order to prevent iron overload.
在一项筛查项目中，我们发现一名5岁女孩的铁参数升高。该患儿被发现同时存在青少年血色素沉着症基因（HJV）的新型R176C突变和G320V突变。该女孩的HFE基因H63D突变也是纯合子。在临床表现出现之前检测到青少年血色素沉着症，这引发了关于如何管理这类幼儿以预防铁过载的问题。
