AbstractTwo 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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Vol. 89 No. 3 (2004): March, 2004 : Case Reports
Ferrata Storti Foundation, Pavia, Italy
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