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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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What is iron-refractory iron deficiency anemia?

How might iron-refractory iron deficiency anemia be treated?

What is iron-refractory iron deficiency anemia?

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

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.[2]

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.[1] There has also been one case report of an affected infant who responded to oral iron therapy when supplemented with ascorbic acid.[2]
Last updated: 4/16/2013

  1. Finberg KE. Iron-refractory iron deficiency anemia. Semin Hematol. October 2009; 46(4):378-386.
  2. 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.