{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:44:22Z","timestamp":1790876662666,"version":"4.1.0"},"reference-count":95,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T00:00:00Z","timestamp":1551744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_uu_12009"],"award-info":[{"award-number":["MC_uu_12009"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000769","name":"University of Oxford","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Congenital dyserythropoietic anaemia type I (CDA\u2010I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA\u2010I is caused by bi\u2010allelic mutations in either\n                    <jats:italic>CDAN1<\/jats:italic>\n                    or\n                    <jats:italic>C15orf41<\/jats:italic>\n                    and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA\u2010I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA\u2010I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA\u2010I is presented, highlighting critical questions likely to lead to improved therapy for this disease.\n                  <\/jats:p>","DOI":"10.1111\/bjh.15817","type":"journal-article","created":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T23:39:38Z","timestamp":1551829178000},"page":"436-449","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I"],"prefix":"10.1111","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0919-0790","authenticated-orcid":false,"given":"No\u00e9mi B. A.","family":"Roy","sequence":"first","affiliation":[{"name":"MRC Molecular Haematology Unit MRC Weatherall Institute of Molecular Medicine University of Oxford Oxford UK"},{"name":"BRC Blood Theme and BRC\/NHS Translational Molecular Diagnostics Centre John Radcliffe Hospital Oxford UK"},{"name":"Oxford University Hospitals NHS Foundation Trust John Radcliffe Hospital Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1898-5878","authenticated-orcid":false,"given":"Christian","family":"Babbs","sequence":"additional","affiliation":[{"name":"MRC Molecular Haematology Unit MRC Weatherall Institute of Molecular Medicine University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.010"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.187"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703526"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.089490"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mph.0000175406.42427.c9"},{"key":"e_1_2_11_7_1","first-page":"461","volume-title":"Bone Marrow Pathology","author":"Bain B.J.","year":"2010"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23543"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1994.tb03278.x"},{"key":"e_1_2_11_10_1","volume-title":"World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Brunning R.D.","year":"2008"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2010.01414.x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healthpol.2012.02.018"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.1911"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01600.x"},{"key":"e_1_2_11_15_1","unstructured":"Crookston J.H. 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