JAK2 V617F Positive Polycythemia Vera in Childhood
Nadia Serbati1, Kaoutar Ainouch2, Sanaa Nassereddine1, Hicham Harmouch2, Mohamed Aouni2, and Sellama Nadifi1
1 Medical Genetic Laboratory and Molecular Pathology, Medical School/Casablanca, Morocco.
2 Department of Internal Medicine, Ibn Sina Hospital, Rabat, Morroco.
2 Department of Internal Medicine, Ibn Sina Hospital, Rabat, Morroco.
Abstract—Polycythemia Vera (PV) is a rare disorder in children and adolescents. Data on clinical and biological features as well as on treatment modalities are sparse. The V617F mutation of JAK2 has been described recently and is found in almost 90% of adult patients with PV. This mutation allows now a reliable and early diagnosis. Therapeutic management is based on phlebotomy and cytoreductive therapy. In young adults and children, interferon alpha is theoretically superior as it is effective and there is no risk of inducing leukemia. We studied the JAK2 (V617F) mutation in a sample of 200 MPD patients. Only one case of pediatric polycythemia Vera has been detected in a 17-year-old girl with the V617F JAK2 mutation.
Index Terms—Polycythemia vera, Moroccan child, V617F mutation, Jak2 gene
Cite: Nadia Serbati, Kaoutar Ainouch, Sanaa Nassereddine, Hicham Harmouch, Mohamed Aouni, and Sellama Nadifi, "JAK2 V617F Positive Polycythemia Vera in Childhood," International Journal of Life Sciences Biotechnology and Pharma Research, Vol. 1, No. 2, pp. 253-258, April 2012.