Polycythemia vera causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ifeoma Odukwe, M.D. [2] Mohamad Alkateb, MBBCh [3] Shyam Patel [4]


Polycythemia vera is caused by a mutation in the JAK2 gene (V617F mutation). This mutation occurs in more than 98% of cases of polycythemia vera. The JAK2 exon 12 mutation occurs in a small proportion of patients. There are no other causes of this disease.


Common Causes

Common causes of polycythemia vera may include:[1]

  • JAK2 V617F gene mutation. This mutation is found in more than 95% of cases of polycythemia vera. It is a point mutation in which valine is replaced by phenylalanine at the 617th position of the gene. The mutation occurs in exon 14 of the JAK2 gene.

Less Common Causes

Less common causes of polycythemia vera include:[1]

  • JAK2 exon 12 gene mutation
  • LNK (SH2B3) gene mutation (inhibitor of JAK-STAT signaling pathway)
  • TET2 gene mutation
  • SF3B1 gene mutation (involved in RNA splicing)
  • DNMT3A gene mutation (involved in epigenetic regulation)
  • ASXL1 gene mutation

Genetic Causes

  • Polycythemia vera is caused by a mutation in various genes. They include:[1]
    • JAK2
    • TET2
    • SF3B1
    • DNMT3A
    • ASXL1

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect No underlying causes
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic JAK2 V617F point mutation, JAK2 exon 12, TET2, SF3B1, DNMT3A, ASXL1
Hematologic No underlying causes
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

List the causes of the disease in alphabetical order:

  • ASXL1 gene mutation
  • DNMT3A gene mutation
  • JAK2 gene mutation
  • SF3B1 gene mutation
  • TET2 gene mutation


  1. 1.0 1.1 1.2 Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R (November 2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F". J. Clin. Oncol. 33 (33): 3953–60. doi:10.1200/JCO.2015.61.6474. PMC 4979103. PMID 26324368.