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A novel compound heterozygous mutation of von Hippel-Lindau gene in a Chinese patient with erythrocytosis

A Correction to this article was published on 13 July 2022

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The datasets generated and analyzed during the current study are not publicly available without application to the Research Ethics Committee of The First Affiliated Hospital of Chongqing Medical University.

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  1. Bellanné-Chantelot C, Rabadan Moraes G, Schmaltz-Panneau B, Marty C, Vainchenker W, Plo I (2020) Germline genetic factors in the pathogenesis of myeloproliferative neoplasms. Blood Rev 42:100710

    Article  Google Scholar 

  2. Chandrasekhar C, Pasupuleti SK, Sarma P (2020) Novel mutations in the EPO-R, VHL and EPAS1 genes in the congenital erythrocytosis patients. Blood Cells Mol Dis 85:102479

    CAS  Article  Google Scholar 

  3. Semenza GL (2009) Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. Blood 114(10):2015–2019

    CAS  Article  Google Scholar 

  4. Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424

    Article  Google Scholar 

  5. Gordeuk VR, Sergueeva AI, Miasnikova GY et al (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 103(10):3924–3932

    CAS  Article  Google Scholar 

  6. Lenglet M, Robriquet F, Schwarz K et al (2018) Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Blood 132(5):469–483

    CAS  Article  Google Scholar 

  7. Bento C, Percy MJ, Gardie B et al (2014) Genetic basis of congenital erythrocytosis: mutation update and online databases. Hum Mutat 35(1):15–26

    CAS  Article  Google Scholar 

  8. Pastore YD, Jelinek J, Ang S et al (2003) Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 101(4):1591–1595

    CAS  Article  Google Scholar 

  9. Bond J, Gale DP, Connor T et al (2011) Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. Blood 117(13):3699–3701

    CAS  Article  Google Scholar 

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Supported by the National Natural Science Foundation of China (grant 81100388, grant 81470344).

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Correspondence to Xiao-Hua Luo.

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This study was approved according to the ethical guidelines of the First Affiliated Hospital of Chongqing Medical University (institutional review board) and was performed according to the Declaration of Helsinki. Written informed consent was obtained from the patient’s family.

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The authors declare no competing interests.

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The original version of this article was revised: This article was originally published with a typographical error. The sentence "Cytogenetics revealed karyotype of 46 XY" should be "Cytogenetics revealed karyotype of 46 XX".

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Li, JN., Luo, XH. & Li, P. A novel compound heterozygous mutation of von Hippel-Lindau gene in a Chinese patient with erythrocytosis. Ann Hematol 101, 2113–2114 (2022).

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