Medline ® Abstract for Reference 157
of 'Regulation of iron balance'
Iron-refractory iron deficiency anemia (IRIDA).
Heeney MM, Finberg KE
Hematol Oncol Clin North Am. 2014 Aug;28(4):637-52, v. Epub 2014 May 28.
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.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 300 Longwood Avenue, Boston, MA 02115, USA.