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

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

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1
Dipartimento 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.

PMID:
22169218
DOI:
10.1016/j.bcmd.2011.11.007
[Indexed for MEDLINE]
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