title: Iron-refractory iron deficiency anemia (IRIDA).
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.
authors: Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Matthew M
authors: MM
authors: Heeney
authors: Department of Pathology, Yale School of Medicine, 310 Cedar Street, New Haven, CT 06510, USA. Electronic address: karin.finberg@yale.edu.
authors: Karin E
authors: KE
authors: Finberg
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D003937:Diagnosis, Differential; D006801:Humans
keywords: Hepcidin; Inherited iron deficiency; Iron-refractory iron deficiency anemia; Matriptase-2; TMPRSS6