JAK2 mutation

JAK2 mutation involves a change in the JAK2 gene, which plays a key role in signaling pathways that control blood cell production. This mutation causes the JAK2 protein to be constantly active, leading to the overproduction of blood cells. It is commonly associated with blood disorders called myeloproliferative neoplasms, such as polycythemia vera, essential thrombocythemia, and myelofibrosis. These conditions can result in symptoms like thickened blood, increased risk of clots, and other complications. Detecting a JAK2 mutation helps in diagnosing these disorders and guiding appropriate treatment strategies.