Screening for the JAK2 V617F Mutation in Patients with Hemoglobinopathies

Stephen E Langabeer


Some clinical and hematological features of patients with hemoglobinopathies can mimic those a myeloproliferative neoplasm (MPN). Given the shifting epidemiology of hemoglobinopathies, the occurrence of the MPN-associated JAK2 V617F mutation and reasons for testing were audited in hemoglobinopathy patients from Ireland.  The JAK2 V617F mutation was not detected in any hemoglobinopathy patients. Given the possible coexistence of an MPN and hemoglobinopathy in the same patient clinical, hematological and morphological features should be carefully considered prior to molecular investigation.

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