Literature DB >> 15020277

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

Alberto Piperno, Antonella Roetto, Raffaella Mariani, Sara Pelucchi, Chiara Corengia, Filomena Daraio, Antonio Piga, Giovanni Garozzo, Clara Camaschella.   

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.

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Year:  2004        PMID： 15020277

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


  11 in total

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