Format

Send to

Choose Destination
Hematol Oncol Clin North Am. 2014 Aug;28(4):637-52, v. doi: 10.1016/j.hoc.2014.04.009. Epub 2014 May 28.

Iron-refractory iron deficiency anemia (IRIDA).

Author information

1
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 300 Longwood Avenue, Boston, MA 02115, USA.
2
Department of Pathology, Yale School of Medicine, 310 Cedar Street, New Haven, CT 06510, USA. Electronic address: karin.finberg@yale.edu.

Abstract

Iron deficiency anemia is a common global problem whose etiology is typically attributed to acquired inadequate dietary intake and/or chronic blood loss. However, in several kindreds multiple family members are affected with iron deficiency anemia that is unresponsive to oral iron supplementation and only partially responsive to parenteral iron therapy. The discovery that many of these cases harbor mutations in the TMPRSS6 gene led to the recognition that they represent a single clinical entity: iron-refractory iron deficiency anemia (IRIDA). This article reviews clinical features of IRIDA, recent genetic studies, and insights this disorder provides into the regulation of systemic iron homeostasis.

KEYWORDS:

Hepcidin; Inherited iron deficiency; Iron-refractory iron deficiency anemia; Matriptase-2; TMPRSS6

PMID:
25064705
DOI:
10.1016/j.hoc.2014.04.009
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center