title: Responsiveness to oral iron and ascorbic acid in a patient with IRIDA.
abstract: Mutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive disorder characterized by hypochromic microcytic anemia not responsive to oral iron therapy and partially responsive to parenteral iron administration. Here we report a female infant homozygous for a loss of function mutation in TMPRSS6 gene, who responded to oral iron therapy when supplemented with ascorbic acid.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
authors.forename: Renzo
authors.initials: R
authors.lastname: Galanello
authors.forename: Nicolina
authors.initials: N
authors.lastname: Giagu
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
mesh_terms: D000284:Administration, Oral; D018798:Anemia, Iron-Deficiency / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D001205:Ascorbic Acid / Q000008:administration & dosage*; D004909:Erythrocyte Indices; D005260:Female; D006801:Humans; D007223:Infant; D007501:Iron / Q000008:administration & dosage*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D012697:Serine Endopeptidases / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human; D001205:Ascorbic Acid