The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants.
High oxygen affinity hemoglobin (Hb) variants are an important and well characterized cause of secondary erythrocytosis. We tested 22 patients with high oxygen affinity beta 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.
McClure
Rebecca F
RF
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Hoyer
James D
JD
Mai
Ming
M
D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D053614:Janus Kinase 2; D010100:Oxygen / Q000097:blood; D017354:Point Mutation; D011086:Polycythemia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000032:analysis / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000032:analysis / Q000235:genetics*; D012680:Sensitivity and Specificity
D006455:Hemoglobins, Abnormal; D011518:Proto-Oncogene Proteins; D005914:Globins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D010100:Oxygen