A man with polycythemia vera, myelodysplastic syndrome and acquired microcytosis

BMJ Case Rep. 2019 Aug 13;12(8):e229695. doi: 10.1136/bcr-2019-229695.


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.

Keywords: haematology (incl blood transfusion); medical education.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis*
  • Blood Cell Count
  • Fatal Outcome
  • Humans
  • Leukocytosis / blood
  • Leukocytosis / complications
  • Leukocytosis / diagnosis*
  • Male
  • Middle Aged
  • Myelodysplastic-Myeloproliferative Diseases / blood
  • Myelodysplastic-Myeloproliferative Diseases / complications
  • Myelodysplastic-Myeloproliferative Diseases / diagnosis*
  • Polycythemia Vera / blood
  • Polycythemia Vera / complications
  • Polycythemia Vera / diagnosis*