iron refractory iron deficiency anaemia

(redirected from Anaemia, hypochromic microcytic, with defect in iron metabolism)

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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