Haematologica, Vol 92, Issue 3, 421-422 doi:10.3324/haematol.10701
Copyright © 2007 by Ferrata Storti Foundation
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Aguilar-Martinez, P.
Right arrow Articles by Rochette, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Aguilar-Martinez, P.
Right arrow Articles by Rochette, J.

Disorders of Iron Metabolism

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

Patricia Aguilar-Martinez*,, Chun Yu Lok°, Séverine Cunat*, Estelle Cadet#, Kathryn Robson°, Jacques Rochette#

* 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.




This article has been cited by other articles:


Home page
 Clin. Chem.Home page
S. Cunat, M. Giansily-Blaizot, M. Bismuth, F. Blanc, O. Dereure, D. Larrey, A. L. Quellec, P. Pouderoux, C. Rose, I. Raingeard, et al.
Global Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron Disorders
Clin. Chem., December 1, 2007; 53(12): 2060 - 2069.
[Abstract] [Full Text] [PDF]

Home page
 haematolHome page
C. Ka, G. Le Gac, E. Letocart, I. Gourlaouen, B. Martin, and C. Ferec
Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation
Haematologica, September 1, 2007; 92(9): 1262 - 1263.
[Abstract] [Full Text] [PDF]