Iron-refractory iron deficiency anemia

Definition:

Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin.

References:

[1]. Karin E Finberg, et al. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May;40(5):569-71. [Content Brief]

[2]. Sandro Altamura, et al. A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. Biochem J. 2010 Nov 1;431(3):363-71. [Content Brief]

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