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Haematologica, Vol 89, Issue 3, 359-360
Copyright © 2004 by Ferrata Storti Foundation

Case Reports

Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload

A Piperno, A Roetto, R Mariani, S Pelucchi, C Corengia, F Daraio, A Piga, G Garozzo, and C Camaschella

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.


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