iron refractory iron deficiency anaemia(redirected from Anaemia, hypochromic microcytic, with defect in iron metabolism)
iron refractory iron deficiency anaemiaA 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.
Defects in TMPRSS6, which encodes a liver specific serine protease, cause IRIDA.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.