{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T21:58:14Z","timestamp":1764194294223,"version":"3.40.4"},"reference-count":24,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,6,2]]},"abstract":"<jats:p>Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the<jats:italic>SLC19A2<\/jats:italic>gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6\u2009g\/dL, leucocytes 2.9\u00d710<jats:sup>9<\/jats:sup>\/L, thrombocytes 6\u00d710<jats:sup>9<\/jats:sup>\/L) revealed by dyspnoea. Investigations excluded coagulopathy, a recent viral infection, vitamin and iron deficiencies, and a malignant process. We later found out that thiamine treatment had been discontinued 5 weeks before, due to prescription error. Parenteral thiamine administration resulted in the recovery of haematopoiesis within 3\u2009weeks. Pancytopenia is uncommon in patients with TRMA. Pre-existing medullary impairment caused by the patient\u2019s daily antipsychotic medications or the natural course of the syndrome may explain the severity of the laboratory findings in our patient.<\/jats:p>","DOI":"10.1136\/bcr-2018-225035","type":"journal-article","created":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T14:38:18Z","timestamp":1528987098000},"page":"bcr-2018-225035","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia"],"prefix":"10.1136","volume":"2018","author":[{"given":"Virginie","family":"Moulin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Grandoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Castioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9074-6505","authenticated-orcid":false,"given":"Henri","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,6,14]]},"reference":[{"key":"2025042703533668000_2018.jun14_1.bcr-2018-225035.1","doi-asserted-by":"crossref","unstructured":"Oishi K , Diaz GA . Thiamine-Responsive Megaloblastic Anemia Syndrome. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae [Internet]. 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