The JAK2 V617F Mutation is Absent in Patients with Erythrocytosis Due to High Oxygen Affinity Hemoglobin Variants

Abstract

High oxygen affinity hemoglobin (Hb) variants are an important and well characterized cause of secondary erythrocytosis. We tested 22 patients with high oxygen affinity β chain variants for the presence of the JAK2 V617F mutation that has been reported in chronic myeloproliferative disorders, particularly polycythemia vera. All specimens showed the absence of this mutation. This observation contributes to the overall clinical specificity of the JAK2 V617F mutation.

Keywords:

• Secondary erythrocytosis
• High oxygen affinity hemoglobin (Hb) variants
• JAK2 V617F mutation