title: Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload.
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.
authors.forename: Alberto
authors.initials: A
authors.lastname: Piperno
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
authors.forename: Raffaella
authors.initials: R
authors.lastname: Mariani
authors.forename: Sara
authors.initials: S
authors.lastname: Pelucchi
authors.forename: Chiara
authors.initials: C
authors.lastname: Corengia
authors.forename: Filomena
authors.initials: F
authors.lastname: Daraio
authors.forename: Antonio
authors.initials: A
authors.lastname: Piga
authors.forename: Giovanni
authors.initials: G
authors.lastname: Garozzo
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
mesh_terms: 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*
chemical_list: D011990:Receptors, Transferrin; C503640:TFR2 protein, human