This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Iron-refractory iron deficiency anemia (IRIDA) is a type of iron deficiency anemia that typically does not improve with oral iron treatment. Children with IRIDA have too little iron in their blood, which causes their red blood cells to be small (microcytic) and pale (hypochromic). The anemia tends to be mild to moderate, but without enough healthy red blood cells, different parts of the body do not get enough oxygen. Symptoms of IRIDA are usually mild, but may include pale skin and in some cases, feeling weak, tired, or dizzy. Growth and development of a child with IRIDA is usually normal.
IRIDA is caused by changes or mutations in the TMPRSS6 gene and inheritance is autosomal recessive. IRIDA is usually suspected in childhood due to the results of routine blood tests, but the diagnosis is confirmed by genetic testing. Depending on the genetic change, some children may have enough improvement with oral iron treatment with vitamin C to need no other treatment. Therefore, treatment may first involve a trial of oral iron along with vitamin C for several weeks. If there is little to no improvement, treatment usually involves intravenous (IV) iron therapy, which may partially improve the anemia. Red blood cell levels often increase on their own in adulthood, so that the anemia no longer is a problem.
For more information, visit GARD.