iron-refractory iron deficiency anaemia

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iron-refractory iron deficiency anaemia2016-11-26T10:53:57+00:00

iron-refractory iron deficiency anaemia 

HAEMATOLOGY

A congenital hypochromic microcytic anaemia (OMIM:206200) characterised by very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption and 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 iron-refractory iron deficiency anaemia–IRIDA.

Synonyms Anaemia—hypochromic microcytic—with defect in iron metabolism, hereditary iron-handling disorder, hypochromic microcytic anaemia with defect in iron metabolism, IRIDA, iron handling disorder—hereditary, pseudo-iron-deficiency anaemia 

References http://www.uniprot.org/uniprot/Q8IU80

http://www.omim.org/entry/206200

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