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由于高氧亲和力血红蛋白变异体导致的红细胞增多症患者不存在JAK2 V617F突变。

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

作者信息

McClure Rebecca F, Hoyer James D, Mai Ming

机构信息

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Hemoglobin. 2006;30(4):487-9. doi: 10.1080/03630260600868147.

DOI:10.1080/03630260600868147
PMID:16987804
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.

摘要

高氧亲和力血红蛋白（Hb）变异是继发性红细胞增多症的一个重要且特征明确的病因。我们对22例具有高氧亲和力β链变异的患者进行检测，以确定是否存在已在慢性骨髓增殖性疾病，尤其是真性红细胞增多症中报道的JAK2 V617F突变。所有标本均未显示该突变。这一观察结果有助于提高JAK2 V617F突变的整体临床特异性。

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