Haematologica, Vol 93, Issue 2, 309-310 doi:10.3324/haematol.11942
Copyright © 2008 by Ferrata Storti Foundation
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Disorders of Iron Metabolism

New TFR2 mutations in young Italian patients with hemochromatosis

Giorgio Biasiotto1, Clara Camaschella2, Gian Luca Forni3, Anna Polotti1, Gabriella Zecchina4, Paolo Arosio1,

1 Dipartimento Materno Infantile e tecnologie Biomediche University of Brescia, A.O. Spedali Civili Brescia;
2 University Vita-Salute San Raffaele, Milan;
3 Centro della Microcitemia e delle Anemie Congenite, Ospedali Galliera, Genova;
4 Dipartimento di Scienze Cliniche e Biologiche Università di Torino, Turin, Italy

Correspondence: Paolo Arosio, PhD, Dipartimento Materno Infantile e Tecnologie Biomediche, Università di Brescia viale Europa 11, 25123 Brescia, Italy. Phone: international +39.030.394386. Fax: international +39.030.307251.{diamond} E-mail: arosio{at}med.unibs.it

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.

Key words: hemochromatosis, iron overload, DHPLC.




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V. Gerolami, G. Le Gac, L. Mercier, M. Nezri, J-L. Berge-Lefranc, and C. Ferec
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent
Haematologica, May 1, 2008; 93(5): e45 - e46.
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