Iron-refractory iron deficiency anemia (IRIDA)

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 an...

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Bibliographic Details
Published inHematology/oncology clinics of North America Vol. 28; no. 4; p. 637
Main Authors Heeney, Matthew M, Finberg, Karin E
Format Journal Article
LanguageEnglish
Published United States 01.08.2014
Subjects
Anemia, Iron-Deficiency - diagnosis
Anemia, Iron-Deficiency - genetics
Anemia, Iron-Deficiency - therapy
Diagnosis, Differential
Humans
Iron-refractory iron deficiency anemia
TMPRSS6
Hepcidin
Matriptase-2
Inherited iron deficiency
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Summary: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.
ISSN:1558-1977
DOI:10.1016/j.hoc.2014.04.009