{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T18:55:01Z","timestamp":1781117701343,"version":"3.54.1"},"reference-count":13,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,7,1]]},"abstract":"<jats:p>Iron deficiency is a common cause of anemia (IDA) in infancy and can be associated with neurocognitive impairments. Iron-refractory IDA (IRIDA) has recently been described as an inherited cause of IDA due to loss-of-function mutations in the TMPRSS6 gene. IRIDA is characterized by a lack of response to iron replacement. Here we report a new case of IRIDA with its biological parameters and its functional consequences, including neuropsychological impact. The latter was evaluated by the Wechsler Preschool and Primary Scale of Intelligence\u2013Fourth Edition and subtests. We report a 5-year-old French Canadian boy who was incidentally diagnosed with a severe microcytic anemia at 2 years of age (hemoglobin 52 g\/L, mean corpuscular volume 50 fL). Except mild pallor, he was asymptomatic of his anemia. Although he had a slight response to intravenous iron therapy, his hemoglobin remained &amp;lt;92 g\/L, with persistent microcytosis, low serum iron, but normal ferritin levels. Blood hepcidin level was higher than those of his parents and control (patient 11.2 nM, father 9.06 nM, mother 4.07 nM). Compound heterozygosity for TMPRSS6 paternally inherited c.1324G&amp;gt;A and maternally inherited c.1807G&amp;gt;C mutations were eventually identified. The patient had normal development and growth. Neuropsychological evaluation revealed excellent performance, with high Wechsler Preschool and Primary Scale of Intelligence\u2013Fourth Edition scores (ie, 82nd percentile for both global intelligence and general ability index). In conclusion, TMPRSS6 c.1807G&amp;gt;C in conjunction with c.1324G&amp;gt;A results in IRIDA. In contrast to the usual form of IDA, IRIDA may not be associated with neuropsychological deficits.<\/jats:p>","DOI":"10.1542\/peds.2015-3608","type":"journal-article","created":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T09:07:43Z","timestamp":1467277663000},"source":"Crossref","is-referenced-by-count":11,"title":["Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report"],"prefix":"10.1542","volume":"138","author":[{"given":"Val\u00e9rie","family":"Arsenault","sequence":"first","affiliation":[{"name":"CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Mailloux","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Bonnefoy","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lemyre","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Pastore","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2016,7,1]]},"reference":[{"issue":"3","key":"2021120904541483000_B1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1177\/0883073811416867","article-title":"Effect of chronic iron deficiency on neuropsychological domains in infants.","volume":"27","author":"Beltr\u00e1n-Navarro","year":"2012","journal-title":"J Child 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patients and genotype-phenotype studies.","volume":"35","author":"De Falco","year":"2014","journal-title":"Hum Mutat"},{"issue":"1","key":"2021120904541483000_B6","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.revmed.2012.04.006","article-title":"[Iron metabolism: state of the art]","volume":"34","author":"Beaumont","year":"2013","journal-title":"Rev Med Interne"},{"issue":"5","key":"2021120904541483000_B7","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.130","article-title":"Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).","volume":"40","author":"Finberg","year":"2008","journal-title":"Nat Genet"},{"issue":"4","key":"2021120904541483000_B8","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/pbc.23190","article-title":"A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.","volume":"58","author":"Choi","year":"2012","journal-title":"Pediatr Blood 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