DisorderDiagnostic FeaturesMutation
Chronic myelogenous leukemiaConstitutional symptoms (e.g., fatigue, weight loss, excessive sweating), splenomegaly & leukocytosis with marked left shift (e.g., myelocytes, metamyelocytes, band forms)Philadelphia chromosome t(9:22), BCR-ABL fusion protein
Essential thrombocytosisHemorrhagic & thrombotic symptoms (e.g., easy bruising, microangiopathic occlusion), thrombocytosis & megakaryocytic hyperplasiaJAK2
Polycythemia veraPruritus, erythromelalgia, splenomegaly, thrombotic complications, erythrocytosis & thrombocytosisJAK2
Primary myelofibrosisSevere fatigue, splenomegaly (often causing early satiety/abdominal discomfort), hepatomegaly, anemia & bone marrow fibrosisJAK2