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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Autores principales:	Fatma YILMAZ, Murat ALBAYRAK, Merih REİS ARAS, Senem MARAL, Hacer Berna AFACAN ÖZTÜRK, Pınar TIĞLIOĞLU, Mesut TIĞLIOĞLU, Buğra SAĞLAM
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/438a44f0413a40c994f7dd9a374cb21b
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spelling	oai:doaj.org-article:438a44f0413a40c994f7dd9a374cb21b2021-11-10T04:37:46ZA RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION2531-137910.1016/j.htct.2021.10.1060https://doaj.org/article/438a44f0413a40c994f7dd9a374cb21b2021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921012074https://doaj.org/toc/2531-1379Case 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.Fatma YILMAZMurat ALBAYRAKMerih REİS ARASSenem MARALHacer Berna AFACAN ÖZTÜRKPınar TIĞLIOĞLUMesut TIĞLIOĞLUBuğra SAĞLAMElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S51- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Fatma YILMAZ Murat ALBAYRAK Merih REİS ARAS Senem MARAL Hacer Berna AFACAN ÖZTÜRK Pınar TIĞLIOĞLU Mesut TIĞLIOĞLU Buğra SAĞLAM A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
description	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.
format	article
author	Fatma YILMAZ Murat ALBAYRAK Merih REİS ARAS Senem MARAL Hacer Berna AFACAN ÖZTÜRK Pınar TIĞLIOĞLU Mesut TIĞLIOĞLU Buğra SAĞLAM
author_facet	Fatma YILMAZ Murat ALBAYRAK Merih REİS ARAS Senem MARAL Hacer Berna AFACAN ÖZTÜRK Pınar TIĞLIOĞLU Mesut TIĞLIOĞLU Buğra SAĞLAM
author_sort	Fatma YILMAZ
title	A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
title_short	A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
title_full	A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
title_fullStr	A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
title_full_unstemmed	A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION
title_sort	rare association in a case with hereditary spherocytosis: spectrin beta (sptb) and jak-2 mutation
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/438a44f0413a40c994f7dd9a374cb21b
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A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATION

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