Neonatal Polycythemia May be Free of JAK2V617F Mutation

• DOI: 10.5336/medsci.2012-29432
• Publication Date: 2013-01-02T11:51:01Z
• Authors: İbrahim AKALIN; Didem ARMANGİL; Ahmet DURMUŞ
• Keywords: Janus kinase 2; Polycythemia rubra vera; Etiology

Objective: Polycythemia is known as increased erythrocytosis and linked to the erythropoiesis cascade including erythropoietin, erythropoietin receptor intracellular signaling proteins. The Janus kinase 2 (JAK2) key signal transducer in cascade. A function gain mutation (V617F) at JAK2 gene has been identified polycythemia vera adults. On other hand, molecular etiology of neonatal not elucidated well. Thus, aim this randomized controlled study was investigate role V617F similar vera. Material Methods: Fifty-one neonates diagnosed with according venous hematocrit level over 65% 26 healthy control group were enrolled addition 43 adult patients analysis performed using Real-Time PCR system. Results: All negative for specific V617F, well neonates, whereas 31 (72%) out patients, present. Conclusion: This first report showing that JAK2-V617F may be an acquired somatic instead congenital related disrupted