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

^* CHU of Montpellier, Laboratory of Haematology, F-34000 Montpellier, France
^° MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK;
^# Génétique Médicale & UPRES EA 3901, Université de Picardie Jules Verne-CHU, Amiens, France

Correspondence: Patricia Aguilar-Martinez, CHU de Montpellier, Laboratoire d'Hématologie, Hôpital Saint Eloi, Avenue Augustin Fliche, 34295 Montpellier cedex 5, France., Phone: international +33.4.67337031., Fax international +33.4.67337036.,E-mail: p-martinez{at}chu-montpellier.fr

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.

Key words: hemojuvelin, HJV, juvenil hemochromatosis, infant.

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