Polycythemia vera (PV) is a BCR-ABL–negative myeloproliferative neoplasm marked by acquisition of an activating mutation of JAK2, which leads to not only erythrocytosis but also frequently to leukocytosis and thrombocytosis, and is associated with a high symptom burden and increased thrombotic risk. The gene discussed is JAK2; the disease is myeloproliferative neoplasm.