Which are the causes of Polycythemia Vera?

Polycythemia Vera (PV) is a rare blood disorder characterized by the overproduction of red blood cells in the bone marrow. This condition is classified as a myeloproliferative neoplasm, which means it is caused by a mutation in the DNA of bone marrow cells.

The primary cause of Polycythemia Vera is a mutation in the JAK2 gene. This gene provides instructions for producing a protein that regulates the production of blood cells. In PV, a specific mutation called JAK2 V617F occurs, leading to the overactivation of the JAK-STAT signaling pathway. This abnormal signaling causes uncontrolled growth and division of blood cells, particularly red blood cells.

While the exact cause of the JAK2 mutation is unknown, it is believed to be acquired rather than inherited. Most cases of PV are sporadic, occurring in individuals with no family history of the disorder. However, there is evidence suggesting a potential link between certain genetic factors and the development of PV.

Other contributing factors to the development of Polycythemia Vera include:

• Age: PV is more commonly diagnosed in individuals over the age of 60, although it can occur at any age.


• Gender: Men are slightly more likely to develop PV than women.


• Exposure to radiation: Previous exposure to high levels of radiation, such as radiation therapy for cancer treatment, may increase the risk of developing PV.


• Environmental factors: Certain environmental factors, such as exposure to chemicals like benzene, have been associated with an increased risk of PV.


• Other genetic mutations: In rare cases, PV may be associated with additional genetic mutations, such as mutations in the TET2 or ASXL1 genes.

It is important to note that while these factors may increase the risk of developing PV, they do not guarantee its development. The exact interplay between genetic and environmental factors in the development of PV is still not fully understood.

Early detection and proper management of Polycythemia Vera are crucial to prevent complications and improve outcomes. If you suspect you may have PV or have concerns about your blood cell counts, it is essential to consult with a healthcare professional for a comprehensive evaluation and appropriate treatment.