3 years after diagnosis with essential thrombocythaemia (JAK2 Val617Phe mutation) in January, 2011, a healthy 26-year-old white woman was referred to the Applied Morphology Research Centre at the University of Pretoria for an ultrastructural blood analysis because of a platelet count of 1240 × 109 cells per L (normal range 150–300 × 109 cells per L). Essential thrombocythaemia is a myeloproliferative disorder characterised by hyperplasia of megakaryocytes in the bone marrow and thrombocytosis. The JAK2 Val617Phe mutation is present in about 50% of people with essential thrombocythaemia and leads to megakaryocyte hyperplasia and consequent thrombocytosis. Although other organs such as the liver can be affected, our patient had no organ involvement, and no history of thrombosis. She was not on any regular medication, had no other medical history, and did not smoke.
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