Methods: We obtained DNA samples from patients with polycythaemia vera, essential thrombocythaemia, or
idiopathic myelofibrosis.
Findings: A single point mutation (Val617Phe) was identified in JAK2 in 71 (97 %) of 73 patients with polycythaemia vera, 29 (57 %) of 51 with essential thrombocythaemia, and eight (50 %) of 16 with
idiopathic myelofibrosis.
Background: Human myeloproliferative disorders form a range of clonal haematological malignant diseases, the main members of which are polycythaemia vera, essential thrombocythaemia, and
idiopathic myelofibrosis.