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

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

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.184...

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Main Authors: Fatma YILMAZ, Murat ALBAYRAK, Merih REİS ARAS, Senem MARAL, Hacer Berna AFACAN ÖZTÜRK, Pınar TIĞLIOĞLU, Mesut TIĞLIOĞLU, Buğra SAĞLAM
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Hematology, Transfusion and Cell Therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2531137921012074

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http://www.sciencedirect.com/science/article/pii/S2531137921012074

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