JAK2 V617F mutation

The JAK2 V617F mutation is a genetic change found in some blood disorders, particularly myeloproliferative neoplasms, which are conditions where the bone marrow makes too many blood cells. This mutation occurs in the JAK2 gene, which helps regulate blood cell production. When mutated, it causes the gene to be constantly "on," leading to excessive blood cell growth. This can result in symptoms like fatigue, headaches, and increased risk of blood clots. Detecting this mutation can help doctors diagnose and manage these disorders more effectively.