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- sickle cell disease
- myeloproliferative disease
A middle-aged woman developed myelofibrosis secondary to polycythaemia vera (PV) while on hydroxycarbamide. She responded successfully to medical therapy—a combination of thalidomide and interferon (IFN). She continues to be in controlled chronic phase polycythaemia after 4 years of diagnosis of myelofibrosis and is on a single agent pegylated (peg)-IFNα-2a.
At the age of 45 years, the patient was diagnosed with primary polycythaemia based on haemoglobin (Hb) 22 g/dl, histological appearances of the bone marrow (figure 1A,B) and absence of other causes. JAK2 mutation analysis was not routinely available at that time. Due to intolerance to venesection, she received treatment with hydroxycarbamide with good control of cell counts. After 7 years (then aged 52 years) she developed anaemia, Hb 9.4 g/dl, which did not improve after cessation of hydroxycarbamide and bone marrow examination surprisingly showed aggressive myelofibrosis secondary to PV (figure 1C,D). The JAK2 status was checked and it was found positive for V516F, with a JAK2V516F/total JAK2 ratio of 31%.