Haematologica, Vol 92, Issue 1, 127-128 doi:10.3324/haematol.10545
Copyright © 2007 by Ferrata Storti Foundation
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Disorders of Iron Metabolism

Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

Alexandra Rideau*, Bastien Mangeat°, Thomas Matthes*, Didier Trono°, Photis Beris*,

* Department of Internal Medicine, Hematology Service;
° Department of Microbiology & Molecular Medicine, Faculty of Medicine, Geneva University, Switzerland (actually: Laboratory of Virology and Genetics, EPFL, Lausanne)

Correspondence: Photis Beris, MD, Service d’Hématologie, Hôpital Cantonal Universitaire de Genève, 24 Micheli-du-Crest 1211 Genève 14, Suisse. Phone: international +41.22.3723926. E-mail: photis.beris{at}hcuge.ch

We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.

Key words: juvenile hemochromatosis, Kozak consensus sequence, hepcidin, HAMP gene.