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.
MeSH terms
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DNA Mutational Analysis
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Diagnosis, Differential
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Globins / genetics*
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Hemoglobinopathies / genetics*
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Hemoglobins, Abnormal / analysis*
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Humans
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Janus Kinase 2
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Oxygen / blood
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Point Mutation*
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Polycythemia / diagnosis
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Polycythemia / etiology
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Polycythemia / genetics*
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Protein-Tyrosine Kinases / analysis
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Protein-Tyrosine Kinases / genetics*
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Proto-Oncogene Proteins / analysis
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Proto-Oncogene Proteins / genetics*
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Sensitivity and Specificity
Substances
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Hemoglobins, Abnormal
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Proto-Oncogene Proteins
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Globins
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Protein-Tyrosine Kinases
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JAK2 protein, human
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Janus Kinase 2
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Oxygen