Iron-refractory iron deficiency anemia
Other Names for this Disease
- IRIDA syndrome
- Anemia, hypochromic microcytic, with defect in iron metabolism
- Iron-handling disorder, hereditary
- Pseudo-iron-deficiency anemia
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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.Iron-refractory iron deficiency anemia (IRIDA) is a condition characterized by
Last updated: 4/15/2013
- Genetics Home Reference (GHR) contains information on Iron-refractory iron deficiency anemia. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.