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Iron-refractory iron deficiency anemia


Other Names for this Disease

  • Anemia, hypochromic microcytic, with defect in iron metabolism
  • IRIDA
  • IRIDA syndrome
  • Iron-handling disorder, hereditary
  • Pseudo-iron-deficiency anemia
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Overview

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

References

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

  • Genetics Home Reference (GHR) contains information on Iron-refractory iron deficiency anemia. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Iron-refractory iron deficiency anemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anemia, hypochromic microcytic, with defect in iron metabolism
  • IRIDA
  • IRIDA syndrome
  • Iron-handling disorder, hereditary
  • Pseudo-iron-deficiency anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.