A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION

Abstract

Case report: Five types of gene variants are seen in hereditary spherocytosis (ANK, SPTB, SPTA1, SLC4A1, EPB42). JAK2 V617F mutation; is most common seen in bcr-abl negative chronic myeloproliferative diseases. As a result of NGS performed before splenectomy, SPTB c.4973+2T> C and JAK-2 c.1849G>T p.(Val617Phe) mutations were detected. Co-occurrence of these two mutations requires special attention in terms of the management of thrombocytosis and side effects that may occur after splenectomy.