{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:40:19Z","timestamp":1756276819391,"version":"3.44.0"},"reference-count":2,"publisher":"BMJ","issue":"4","license":[{"start":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T00:00:00Z","timestamp":1744675200000},"content-version":"unspecified","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Ghadah Azzah","award":["one Third of the cost"],"award-info":[{"award-number":["one Third of the cost"]}]},{"name":"Barbrara Piel","award":["one Third of the cost"],"award-info":[{"award-number":["one Third of the cost"]}]},{"name":"Razan Mohamed","award":["one Third of the cost"],"award-info":[{"award-number":["one Third of the cost"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,3,28]]},"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>Diamond\u2013Blackfan anaemia (DBA) is a rare congenital disorder characterised by pure red cell aplasia and often associated with various congenital anomalies. This chronic condition has a heterogeneous genetic profile, typically inherited in an autosomal dominant manner, though rare cases of autosomal recessive inheritance exist. Most patients (90%) exhibit symptoms before 12 months of age, with the median age of presentation and diagnosis being approximately 2 months. This report presents a unique case of DBA identified at birth, resulting in a preterm delivery. The patient continues to be managed with frequent blood transfusions.<\/jats:p>","DOI":"10.1136\/bcr-2024-262786","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T16:25:36Z","timestamp":1744734336000},"page":"e262786","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Diamond\u2013Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8447-567X","authenticated-orcid":false,"given":"Razan","family":"Mohamed","sequence":"first","affiliation":[{"name":"Paediatric, Queen Elizabeth Hospital King\u2019s Lynn NHS Trust, King\u2019s Lynn, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1019-9211","authenticated-orcid":false,"given":"Ghadah","family":"Azzah","sequence":"additional","affiliation":[{"name":"Paediatrics, Queen Elizabeth Hospital King\u2019s Lynn NHS Trust, Kings Lynn, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Piel","sequence":"additional","affiliation":[{"name":"Paediatrics, Queen Elizabeth Hospital King\u2019s Lynn NHS Trust, Kings Lynn, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"key":"2025082623092616000_18.4.e262786.1","unstructured":"Gadhiya K , Wills C . Diamond blackfan anemia. In: StatPearls. 2023. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK545302\/#:~:text=with%20genetic%20etiology.-,Diamond%20Blackfan%20anemia%20(DBA)%20is%20a%20congenital%20type%20of%20anemia,40%20to%2045%25%20of%20cases"},{"key":"2025082623092616000_18.4.e262786.2","unstructured":"UpToDate . Diamond-blackfan anemia. n.d. Available: https:\/\/eur02.safelinks.protection.outlook.com\/?url=https%3A%2F%2Fwww.uptodate.com%2Fcontents%2Fdiamond-blackfan-anemia%3Fsearch%3Ddiamond%2520blackfan%2520anemia%26source%3Dsearch_result%26selectedTitle%3D1~30%26usage_type%3Ddefault%26display_rank%3D1%23H3340799165&data=05%7C02%7CRazan.Mohamed%40qehkl.nhs.uk%7C3ddebe91f59e4fe1198808dcb8777f9d%7C2663724102c34d5db4e960546bc5483a%7C1%7C0%7C638588070602793526%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C0%7C%7C%7C&sdata=EElps1U5rBl31R8aKmkciJ2insntCeORjF4LWL%2Fyf68%3D&reserved=0"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-262786","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:09:32Z","timestamp":1756274972000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-262786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":2,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4,15]]},"published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1136\/bcr-2024-262786"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-262786","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,4]]}}}