Compartilhar
Informação da revista
Vol. 43. Núm. S3.
Páginas S51 (Novembro 2021)
Compartilhar
Compartilhar
Baixar PDF
Mais opções do artigo
Vol. 43. Núm. S3.
Páginas S51 (Novembro 2021)
PP 50
Open Access
A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
Visitas
...
Fatma YILMAZ, Murat ALBAYRAK, Merih REİS ARAS, Senem MARAL, Hacer Berna AFACAN ÖZTÜRK, Pınar TIĞLIOĞLU, Mesut TIĞLIOĞLU, Buğra SAĞLAM
Health Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology Clinic
Informação do artigo
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.

O texto completo está disponível em PDF
Idiomas
Hematology, Transfusion and Cell Therapy

Receba a nossa Newsletter

Opções de artigo
Ferramentas