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

Blood Cells Mol Dis. 2012 Feb 15;48(2):121-3. doi: 10.1016/j.bcmd.2011.11.007. Epub 2011 Dec 14.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Anemia, Iron-Deficiency / blood
  • Anemia, Iron-Deficiency / drug therapy*
  • Anemia, Iron-Deficiency / genetics
  • Ascorbic Acid / administration & dosage*
  • Erythrocyte Indices
  • Female
  • Humans
  • Infant
  • Iron / administration & dosage*
  • Membrane Proteins / genetics
  • Mutation
  • Serine Endopeptidases / genetics

Substances

  • Membrane Proteins
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human
  • Ascorbic Acid