title: 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 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.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Rebecca F
authors.initials: RF
authors.lastname: McClure
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Ming
authors.initials: M
authors.lastname: Mai
mesh_terms: 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
chemical_list: D006455:Hemoglobins, Abnormal; D011518:Proto-Oncogene Proteins; D005914:Globins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D010100:Oxygen