Background: Thrombocytosis is a commonly encountered clinical scenario, with a large proportion of cases discovered incidentally when complete blood count is obtained for some unrelated reason, creating an important diagnostic challenge.
Aim of the Work: To evaluate the diagnostic and prognostic value of CALR mutations testing in patients with persistent thrombocytosis, and study the relation of thismutations with clinical and hematological parameters.
Patients and Methods: The present study included fifty patients with persistent thrombocytosis (platelet count > 450×109/L) for at least 3 months. All subjects were genotyped for the CALR gene using high resolution melting PCR (HRM-PCR) technique. The study was approved by the Research Ethics Committee of Ain Shams University.
Results: The present study revealed that CALR gene mutations are positive in one-third of cases with 1ry thrombocytosis. The mutations are associated with younger age males with higher platelet count, lower hemoglobin level and lower total leucocytic count (TLC) than CALR wild type counterparts.
Conclusion: The present study revealed that CALRexon 9 mutations can influence the clinical and hematological phenotype of the patient and hence the disease diagnosis and prognosis.