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Positive JAK2-V617F leading to diagnosis of Gaucher's disease
  1. Stella Appiah-Cubi1,
  2. Bridget S Wilkins2,
  3. Claire Harrison1
  1. 1Department of Haematology, Guys and St Thomas' NHS Foundation Trust, London, UK
  2. 2Department of Histopathology, Guys and St Thomas Hospital NHS Trust, London, UK
  1. Correspondence to Dr Stella Appiah-Cubi, Haematology, Guys and St Thomas' NHS Foundation Trust, Guys Hospital, Great Maze Pond, London SE1 9RT, UK; sacubi{at}

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A 41-year-old lady of Afro-Caribbean origin was referred to our unit for further investigation of pancytopenia and splenomegaly; a diagnosis of primary myelofibrosis was suspected.

Two years previously, she had been investigated in her local hospital for pancytopenia (haemoglobin 10.9 g/dl, mean cell volume (MCV) 79 fl, platelet count 111×109/l and white blood cell (WBC) 2.9×109/l). Systemic enquiry revealed that she had bony aches and pains and menorrhagia. She was known to have uterine fibroids but there was no other medical or family history of note.

Clinical examination indicated moderate splenomegaly and her spleen measured 22 cm on a CT scan. A blood film was unremarkable but testing for JAK-2V617F …

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  • Competing interests None.

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