Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

被引：25

作者：

Aguilar-Martinez, Patricia ^{[1
]}

Lok, Chun Yu ^{[2
]}

Cunat, Severine ^{[1
]}

Cadet, Estelle ^{[3
,4
]}

Robson, Kathryn ^{[2
]}

Rochette, Jacques ^{[3
,4
]}

机构：

[1] CHU Montpellier, Haematol Lab, F-34000 Montpellier, France

[2] MRC, Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England

[3] Univ Picardie Jules Verne, CHU, Genet Med, Amiens, France

[4] Univ Picardie Jules Verne, CHU, UPRES, EA 3901, Amiens, France

来源：

HAEMATOLOGICA | 2007年 / 92卷 / 03期

关键词：

hemojuvelin; HJV; juvenil hemochromatosis; infant;

D O I：

10.3324/haematol.10701

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：421 / 422

页数：2

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