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: Milena Cau, Renzo Galanello, Nicolina Giagu, Maria Antonietta Melis
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 48 Issue 2 Pg. 121-3 (Feb 15 2012) ISSN: 1096-0961 [Electronic] United States
• PMID: 22169218 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 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)