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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.
Source: GARD Last updated on 05-01-20
Children with IRIDA typically have normal growth and development. While information regarding the long- term effects of IRIDA are limited, in general, signs and symptoms of IRIDA appear to improve with age.
Last updated on 05-01-20
Children with iron-refractory iron deficiency anemia (IRIDA) usually do not respond to oral iron therapy. However, some children with IRIDA may partially respond to high doses of oral iron, prolonged oral iron therapy, or oral iron therapy combined with vitamin C. Medical researchers suggest the different responses to iron therapies may be linked to the exact change or mutation in the TMPRSS6 gene causing IRIDA.
Current treatment guidelines recommend an initial trial of oral iron along with vitamin C for several weeks to see if the anemia improves. If there is no improvement or minimal improvement, further treatment involves intravenous (IV) iron therapy. Even with IV therapy, only a partial improvement is expected. However in most cases, partial improvement of mild to moderate anemia results in enough healthy red blood cells to provide all of the body with oxygen. In addition, although only a few people with IRIDA have been followed into adulthood, red blood cell levels have been found to increase to low normal levels, suggesting treatment of adults with IRIDA may not be needed.
Last updated on 05-01-20
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