JAK2 and Calreticulin Mutations in the General Population

JAK2 and CALR mutations are prevalent in the general population, especially in smokers, and those with JAK2 mutations have excess risk for venous thromboembolism.

JAK2 V617F and calreticulin (CALR) mutations are common in patients with myeloproliferative neoplasms (MPNs), and they have facilitated the diagnostic workup of leukocytosis, thrombocytosis, and erythrocytosis as well as atypical site thrombosis. The prevalence of JAK2 mutations in the general population is below 1%; patients with this mutation and no overt MPN have clonal hematopoiesis of indeterminate potential (CHIP).

To determine the prevalence of CALR mutations in the general population, investigators used digital PCR (sensitivity 0.009% for JAK2 and 0.01% for CALR) to analyze 19,958 blood samples from the Danish General Suburban Population study. Results were as follows:

645 (3.2%) of participants were mutation positive: 613 (3.0%) were…

Reviewing Author

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

JAK2 and Calreticulin Mutations in the General Population

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Reviewing Author