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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.
AuthorsMilena Cau, Renzo Galanello, Nicolina Giagu, Maria Antonietta Melis
JournalBlood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 48 Issue 2 Pg. 121-3 (Feb 15 2012) ISSN: 1096-0961 [Electronic] United States
PMID22169218 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2011 Elsevier Inc. All rights reserved.
Chemical References
  • Membrane Proteins
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human
  • Ascorbic Acid
Topics
  • Administration, Oral
  • Anemia, Iron-Deficiency (blood, drug therapy, genetics)
  • Ascorbic Acid (administration & dosage)
  • Erythrocyte Indices
  • Female
  • Humans
  • Infant
  • Iron (administration & dosage)
  • Membrane Proteins (genetics)
  • Mutation
  • Serine Endopeptidases (genetics)

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