iron refractory iron deficiency anaemia

(redirected from IRIDA)

iron refractory iron deficiency anaemia

A congenital hypochromic microcytic anaemia (OMIM:206200) characterised by very low mean corpuscular erythrocyte volume; low transferrin saturation; abnormal iron absorption, with no haematologic improvement following treatment with oral iron; abnormal iron utilisation with a sluggish, incomplete response to parenteral iron; and normal urinary levels of hepcidin. 

Molecular pathology
Defects in TMPRSS6, which encodes a liver specific serine protease, cause IRIDA.
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References in periodicals archive ?
The company added that IRIDA is caused by a mutation in a gene controlling the expression of hepcidin, which leads to high levels of hepcidin.
Consequently, the IRIDA patients do not respond to IV iron preparations, which have to be processed in the RES, according to the company.
He has been a non-Executive Director of KEGO SA in Greece and currently a Director of IRIDA SA based also in Greece and involved in the field of fish nutrition, biology fish health and genetics.
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
the company will use the pre-commercialisation financing to establish cGMP/ISO compliant manufacturing of the Intrinsic Hepcidin Index in vitro diagnostic, and conduct a prospective trial at Boston Children's Hospital to clinically validate the Hepcidin Index test for the differential diagnosis of IRIDA from other types of anemia.