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A man with polycythemia vera, myelodysplastic syndrome and acquired microcytosis
  1. Michael Mann1,
  2. Tania Kreuzbauer2 and
  3. David B Sykes3
  1. 1 Medicine, SUNY Downstate Medical Center, Brooklyn, New York, USA
  2. 2 Medicine, University of Exeter Medical School, Exeter, UK
  3. 3 Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr David B Sykes, dbsykes{at}


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 fL down from his baseline of ~90 fL. 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.

  • haematology (incl blood transfusion)
  • medical education

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  • Contributors MM wrote the manuscript with support from TK and DBS.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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