Literature DB >> 16987804

The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants.

Rebecca F McClure1, James D Hoyer, Ming Mai.   

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.

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Year:  2006        PMID： 16987804     DOI： 10.1080/03630260600868147

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


  4 in total

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4.  Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Authors:  Daniela Šimčíková; Petr Heneberg
Journal:  Sci Rep       Date:  2019-12-09       Impact factor: 4.379
  4 in total

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