iron refractory iron deficiency anaemia

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.