{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:08:44Z","timestamp":1784203724881,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T00:00:00Z","timestamp":1621209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016062","name":"Stichting Metakids","doi-asserted-by":"publisher","award":["2017\u2010075"],"award-info":[{"award-number":["2017\u2010075"]}],"id":[{"id":"10.13039\/100016062","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":[[2021,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The diagnostic evaluation of Diamond Blackfan Anaemia (DBA), an inherited bone marrow failure syndrome characterised by erythroid hypoplasia, is challenging because of a broad phenotypic variability and the lack of functional screening tests. In this study, we explored the potential of untargeted metabolomics to diagnose DBA. In dried blood spot samples from 18 DBA patients and 40 healthy controls, a total of 1752 unique metabolite features were identified. This metabolic fingerprint was incorporated into a machine\u2010learning algorithm, and a binary classification model was constructed using a training set. The model showed high performance characteristics (average accuracy 91\u00b79%), and correct prediction of class was observed for all controls (<jats:italic>n<\/jats:italic>\u00a0=\u00a012) and all but one patient (<jats:italic>n<\/jats:italic>\u00a0=\u00a04\/5) from the validation or \u2018test\u2019 set (accuracy 94%). Importantly, in patients with congenital dyserythropoietic anaemia (CDA) \u2013 an erythroid disorder with overlapping features \u2013 we observed a distinct metabolic profile, indicating the disease specificity of the DBA fingerprint and underlining its diagnostic potential. Furthermore, when exploring phenotypic heterogeneity, DBA treatment subgroups yielded discrete differences in metabolic profiles, which could hold future potential in understanding therapy responses. Our data demonstrate that untargeted metabolomics in dried blood spots is a promising new diagnostic tool for DBA.<\/jats:p>","DOI":"10.1111\/bjh.17524","type":"journal-article","created":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T07:53:40Z","timestamp":1621238020000},"page":"1185-1193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia"],"prefix":"10.1111","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8889-3362","authenticated-orcid":false,"given":"Birgit","family":"van Dooijeweert","sequence":"first","affiliation":[{"name":"Central Diagnostic Laboratory\u2010Research University Medical Center Utrecht Utrecht University Utrecht the Netherlands"},{"name":"Department of Paediatric Haematology University Medical Center Utrecht Utrecht University Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa H.","family":"Broeks","sequence":"additional","affiliation":[{"name":"Section Metabolic Diagnostics Department of Genetics University Medical Center Utrecht Utrecht University Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3934-7189","authenticated-orcid":false,"given":"Eduard J.","family":"van Beers","sequence":"additional","affiliation":[{"name":"Van Creveldkliniek University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanda M.","family":"Verhoeven\u2010Duif","sequence":"additional","affiliation":[{"name":"Section Metabolic Diagnostics Department of Genetics University Medical Center Utrecht Utrecht University Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter W.","family":"van Solinge","sequence":"additional","affiliation":[{"name":"Central Diagnostic Laboratory\u2010Research University Medical Center Utrecht Utrecht University Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward E. 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