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: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/438a44f0413a40c994f7dd9a374cb21b |
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| Sumario: | 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. |
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