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Iron-refractory iron deficiency anemia

Other Names for this Disease
  • Anemia, hypochromic microcytic, with defect in iron metabolism
  • IRIDA syndrome
  • Iron-handling disorder, hereditary
  • Pseudo-iron-deficiency anemia
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Iron-refractory iron deficiency anemia (IRIDA) is a condition characterized by iron deficiency anemia (IDA) that is unresponsive to oral iron treatment but partially responsive to parenteral iron therapy (provided by injection or I.V.). It is currently unclear whether affected individuals are iron-deficient at birth; iron transfer in utero may be normal with depletion of iron stores occurring after birth. Despite laboratory evidence of severe iron deficiency, signs and symptoms of iron deficiency have been noted in only some of the reported cases and have included pallor, dry skin, and lesions at the corners of the mouth. Growth and development is reportedly normal. IRIDA is caused by mutations in the TMPRSS6 gene and is inherited in an autosomal recessive manner.[1]
Last updated: 4/15/2013


  1. Finberg KE. Iron-refractory iron deficiency anemia. Semin Hematol. October 2009; 46(4):378-386.
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