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.

Responsiveness to oral iron and ascorbic acid in a patient with IRIDA

CAU, MILENA;GALANELLO, RENZO;MELIS, MARIA ANTONIETTA
2012-01-01

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/137986
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