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 maintaining iron balance in the first decades of life.
Piperno
Alberto
A
Roetto
Antonella
A
Mariani
Raffaella
R
Pelucchi
Sara
S
Corengia
Chiara
C
Daraio
Filomena
F
Piga
Antonio
A
Garozzo
Giovanni
G
Camaschella
Clara
C
D000293:Adolescent; D002675:Child, Preschool; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000139:chemically induced*; D008297:Male; D017354:Point Mutation; D011990:Receptors, Transferrin / Q000235:genetics*
D011990:Receptors, Transferrin; C503640:TFR2 protein, human