Two Italian subjects, aged three and sixteen years, presented with early iron overload as shown by increased serum iron indices and hepatic iron concentration. They both carried the Y250X mutation of the TFR2 gene in the homozygous state. We suggest that transferrin receptor-2 is important in maintaining iron balance in the first decades of life.

Piperno, A., Roetto, A., Mariani, R., Pelucchi, S., Corengia, C., Daraio, F., et al. (2004). Homozygosity for transferrin receptor-2 y250x mutation induces early iron overload. HAEMATOLOGICA, 89(3), 359-360.

Homozygosity for transferrin receptor-2 y250x mutation induces early iron overload

PIPERNO, ALBERTO;MARIANI, RAFFAELLA;PELUCCHI, SARA;
2004-03

Abstract

Two Italian subjects, aged three and sixteen years, presented with early iron overload as shown by increased serum iron indices and hepatic iron concentration. They both carried the Y250X mutation of the TFR2 gene in the homozygous state. We suggest that transferrin receptor-2 is important in maintaining iron balance in the first decades of life.
Articolo in rivista - Articolo scientifico
Y250x, Tfr2, Type 3 Hemochromatosis
English
359
360
Piperno, A., Roetto, A., Mariani, R., Pelucchi, S., Corengia, C., Daraio, F., et al. (2004). Homozygosity for transferrin receptor-2 y250x mutation induces early iron overload. HAEMATOLOGICA, 89(3), 359-360.
Piperno, A; Roetto, A; Mariani, R; Pelucchi, S; Corengia, C; Daraio, F; Piga, A; Garozzo, G; Camaschella, C
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/4071
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