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

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

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 mainta...

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Veröffentlicht in:Haematologica (Roma) 2004-03, Vol.89 (3), p.359
Hauptverfasser: Piperno, Alberto, Roetto, Antonella, Mariani, Raffaella, Pelucchi, Sara, Corengia, Chiara, Daraio, Filomena, Piga, Antonio, Garozzo, Giovanni, Camaschella, Clara
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Child, Preschool
Homozygote
Humans
Iron Overload - chemically induced
Male
Point Mutation
Receptors, Transferrin - genetics
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Zusammenfassung: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.
ISSN:1592-8721