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Responsiveness to oral iron and ascorbic acid in a patient with IRIDA
Milena Cau1, Renzo Galanello, Nicolina Giagu
1Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy.
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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