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We present a child with CDA 1b\u2014the rarest and least well\u2010described type\u2014due to a mutation in the <jats:italic>C15orf41<\/jats:italic> gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities. The patient responded to treatment with pegylated interferon alfa\u20102a.<\/jats:p>","DOI":"10.1002\/pbc.26866","type":"journal-article","created":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T17:16:41Z","timestamp":1508433401000},"source":"Crossref","is-referenced-by-count":12,"title":["Successful management of transfusion\u2010dependent congenital dyserythropoietic anemia type 1b with interferon alfa\u20102a"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7533-3112","authenticated-orcid":false,"given":"Mathias","family":"Rathe","sequence":"first","affiliation":[{"name":"Hans Christian Andersen Children's Hospital Odense University Hospital  Odense Denmark"},{"name":"Department of Pediatrics Lillebaelt Hospital  Kolding Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael Boe","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Pathology Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pernille Wied","family":"Greisen","sequence":"additional","affiliation":[{"name":"Department of Radiology Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Fisker","sequence":"additional","affiliation":[{"name":"Hans Christian Andersen Children's Hospital Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05757.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200411000-00011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/344781"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.089490"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02168.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)90025-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0421"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12778"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24945"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb08442.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0609.2000.9c244.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1997.tb00935.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2004.00310.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880010590907221"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880010590935149"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200208000-00020"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00054-9"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003300050926"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703526"},{"key":"e_1_2_6_21_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Tamary H","year":"1993"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.26866","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.26866","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T21:02:26Z","timestamp":1695934946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.26866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,19]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1002\/pbc.26866"],"URL":"https:\/\/doi.org\/10.1002\/pbc.26866","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,19]]},"article-number":"e26866"}}