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Genetic and Rare Diseases Information Center (GARD)

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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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How might iron-refractory iron deficiency anemia be treated?

Individuals with iron-refractory iron deficiency anemia (IRIDA) typically do not respond to oral iron treatment, but may partially respond to parenteral iron administration (via injection or intravenously); therefore, IRIDA is typically treated with parenteral iron. Currently there are only a few reports addressing the effectiveness of iron treatment and follow up of individuals receiving treatment.[1]

Pearson and Lukens proposed a treatment regimen involving iron dextran administration every 2 to 4 years, or when serum ferritin levels decreased to lower than 50-75 ng/mL, or if the mouth ulcerations observed in their patients recurred. Hartman et al described the course of five individuals with IRIDA who were followed for 15 years and noted that if repeated iron infusions were given (causing the serum ferritin to increase to levels greater than 200 ng/mL), considerable improvement in both anemia and microcytosis occurred. While the serum iron and transferrin saturation occasionally reached the normal range, their patients still generally remained hypoferremic. When iron infusions were stopped microcytosis returned, but not to the severe degree present in infancy.[2] There has also been one case report of an affected infant who responded to oral iron therapy when supplemented with ascorbic acid.[1]
Last updated: 4/16/2013

  1. Cau M, Galanello R, Giagu N, Melis MA. Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. Blood Cells Mol Dis. February 15, 2012; 48(2):121-123.
  2. Finberg KE. Iron-refractory iron deficiency anemia. Semin Hematol. October 2009; 46(4):378-386.

Clinical Trials & Research for this Disease

  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.