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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-11-01
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| Series: | Hematology, Transfusion and Cell Therapy |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2531137921012074 |
| _version_ | 1830301626929250304 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T08:53:03Z |
| format | Article |
| id | doaj.art-438a44f0413a40c994f7dd9a374cb21b |
| institution | Directory Open Access Journal |
| issn | 2531-1379 |
| language | English |
| last_indexed | 2024-12-19T08:53:03Z |
| publishDate | 2021-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Hematology, Transfusion and Cell Therapy |
| spelling | doaj.art-438a44f0413a40c994f7dd9a374cb21b2022-12-21T20:28:41ZengElsevierHematology, Transfusion and Cell Therapy2531-13792021-11-0143S51A RARE ASSOCIATION IN A CASE WITH HEREDITARY SPHEROCYTOSIS: SPECTRIN BETA (SPTB) AND JAK-2 MUTATIONFatma YILMAZ0Murat ALBAYRAK1Merih REİS ARAS2Senem MARAL3Hacer Berna AFACAN ÖZTÜRK4Pınar TIĞLIOĞLU5Mesut TIĞLIOĞLU6Buğra SAĞLAM7Health Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicHealth Sciences University Diskapı Yıldırım Beyazit Training and Research Hospital, Hematology ClinicCase 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.http://www.sciencedirect.com/science/article/pii/S2531137921012074 |
| spellingShingle | 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 Hematology, Transfusion and Cell Therapy |
| title | 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_short | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S2531137921012074 |
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