{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:01Z","timestamp":1756374001519,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,9]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>A 59-year-old white man with known myeloproliferative neoplasm (MPN) and myelodysplastic syndrome (MDS) presented with worsening leucocytosis and thrombocytosis in the setting of a presumed infection. The patient had been diagnosed 2 years earlier with an MPN\/MDS overlap syndrome, based on characteristic mutations in JAK2, IDH1 and SRSF2. During his current evaluation, he was noted to have new microcytosis, with a mean corpuscular volume of ~70\u2009fL down from his baseline of ~90\u2009fL. His laboratory workup showed normal iron studies, normal haemoglobin electrophoresis, and no evidence of haemoglobin H or mutations in his ATRX coding region. Without any identifiable cause of his new microcytosis, he was given a presumptive diagnosis of acquired thalassemia in the setting of his unusual MPN\/MDS overlap syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2019-229695","type":"journal-article","created":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T07:19:29Z","timestamp":1565767169000},"page":"e229695","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["A man with polycythemia vera, myelodysplastic syndrome and acquired microcytosis"],"prefix":"10.1136","volume":"12","author":[{"given":"Michael","family":"Mann","sequence":"first","affiliation":[{"name":"Medicine, SUNY Downstate Medical Center, Brooklyn, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Kreuzbauer","sequence":"additional","affiliation":[{"name":"Medicine, University of Exeter Medical School, Exeter, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9788-0221","authenticated-orcid":false,"given":"David B","family":"Sykes","sequence":"additional","affiliation":[{"name":"Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,13]]},"reference":[{"key":"2025082802134047000_12.8.e229695.1","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(73)91446-3","article-title":"Differentiation of iron deficiency from thalassaemia trait","volume":"1","author":"Mentzer","year":"1973","journal-title":"Lancet"},{"key":"2025082802134047000_12.8.e229695.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1215361"},{"key":"2025082802134047000_12.8.e229695.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1968.tb15149.x"},{"key":"2025082802134047000_12.8.e229695.4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1093\/ajcp\/aqx047","article-title":"Molecular Diagnosis of Thalassemias and Hemoglobinopathies","volume":"148","author":"Sabath","year":"2017","journal-title":"Am J Clin Pathol"},{"key":"2025082802134047000_12.8.e229695.5","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1016\/j.mayocp.2015.04.001","article-title":"Myelodysplastic Syndromes: Diagnosis and Treatment","volume":"90","author":"Steensma","year":"2015","journal-title":"Mayo Clin Proc"},{"key":"2025082802134047000_12.8.e229695.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2792"},{"key":"2025082802134047000_12.8.e229695.7","doi-asserted-by":"crossref","first-page":"148","DOI":"10.14740\/jh190w","article-title":"Acquired \u03b2-Thalassemia as an Etiology of Microcytic Anemia in Primary Myelofibrosis","volume":"4","author":"Kanasaki","year":"2015","journal-title":"Journal of Hematology"},{"key":"2025082802134047000_12.8.e229695.8","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-09-3360"},{"key":"2025082802134047000_12.8.e229695.9","first-page":"1463","article-title":"A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome","volume":"90","author":"Nelson","year":"2005","journal-title":"Haematologica"},{"key":"2025082802134047000_12.8.e229695.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2006.00628.x"},{"key":"2025082802134047000_12.8.e229695.11","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1002\/ajh.24073","article-title":"Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis","volume":"90","author":"Herbaux","year":"2015","journal-title":"Am J Hematol"},{"key":"2025082802134047000_12.8.e229695.12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20734"},{"key":"2025082802134047000_12.8.e229695.13","doi-asserted-by":"crossref","DOI":"10.1182\/blood.V110.11.4591.4591","article-title":"Analysis of JAK2 V167F Mutation in Myelodysplastic Syndromes","volume":"110","author":"Fermo","year":"2007","journal-title":"Blood"},{"key":"2025082802134047000_12.8.e229695.14","doi-asserted-by":"crossref","unstructured":"Davids MS , Steensma DP . 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