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Haemoglobinopathia Ypsilanti - A rare, but important differential diagnosis to polycythaemia vera

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We present a case of a mother and daughter who were initially diagnosed with polycythaemia vera and treated with venesectio. As JAK2 V6217F/exon 12 mutation analyses became available, these were performed and turned out negative. Haemoglobin electrophoresis wa... ...