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Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report

Thalassemia and myeloproliferative neoplasias (MPNs) are recognized as two separate diseases. Thalassemia is a hemolytic disease caused by abnormal goblin genes, which results in the deficiency of globin chains. MPNs are clonal hematopoietic stem cell diseases characterized by the proliferation of m...

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Autores principales: Wu, Cai, Zhang, Xuewu, Ye, Xingnong, Chen, Dan, Jin, Jie, Huang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798331/
https://www.ncbi.nlm.nih.gov/pubmed/35117557
http://dx.doi.org/10.21037/tcr.2020.01.48
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author Wu, Cai
Zhang, Xuewu
Ye, Xingnong
Chen, Dan
Jin, Jie
Huang, Jian
author_facet Wu, Cai
Zhang, Xuewu
Ye, Xingnong
Chen, Dan
Jin, Jie
Huang, Jian
author_sort Wu, Cai
collection PubMed
description Thalassemia and myeloproliferative neoplasias (MPNs) are recognized as two separate diseases. Thalassemia is a hemolytic disease caused by abnormal goblin genes, which results in the deficiency of globin chains. MPNs are clonal hematopoietic stem cell diseases characterized by the proliferation of multiple myeloid lineages. The coexistence of thalassemia and myeloproliferative neoplasia are rarely reported. We herein describe a case of a 24-year-old woman, previously diagnosed as β-thalassemia, with a lifelong history of thrombocytosis. She was subsequently diagnosed as low-risk essential thrombocythemia (ET), one of the MPNs. The patient was treated with folic acid supplementation and Iron-chelating therapy, without aspirin or cytoreductive therapy. Up to date, no thrombotic events or disease-related bleeding are happening to the patient, who remains in good health. Furthermore, we found three novel genes mutations EP300, CUX1, and FGFR3 after next-generation sequencing. We presume that the mutations of these genes in β-thalassemia might have an impact on the happening of ET and therefore need further investigations.
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spelling pubmed-87983312022-02-02 Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report Wu, Cai Zhang, Xuewu Ye, Xingnong Chen, Dan Jin, Jie Huang, Jian Transl Cancer Res Case Report Thalassemia and myeloproliferative neoplasias (MPNs) are recognized as two separate diseases. Thalassemia is a hemolytic disease caused by abnormal goblin genes, which results in the deficiency of globin chains. MPNs are clonal hematopoietic stem cell diseases characterized by the proliferation of multiple myeloid lineages. The coexistence of thalassemia and myeloproliferative neoplasia are rarely reported. We herein describe a case of a 24-year-old woman, previously diagnosed as β-thalassemia, with a lifelong history of thrombocytosis. She was subsequently diagnosed as low-risk essential thrombocythemia (ET), one of the MPNs. The patient was treated with folic acid supplementation and Iron-chelating therapy, without aspirin or cytoreductive therapy. Up to date, no thrombotic events or disease-related bleeding are happening to the patient, who remains in good health. Furthermore, we found three novel genes mutations EP300, CUX1, and FGFR3 after next-generation sequencing. We presume that the mutations of these genes in β-thalassemia might have an impact on the happening of ET and therefore need further investigations. AME Publishing Company 2020-03 /pmc/articles/PMC8798331/ /pubmed/35117557 http://dx.doi.org/10.21037/tcr.2020.01.48 Text en 2020 Translational Cancer Research. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.
spellingShingle Case Report
Wu, Cai
Zhang, Xuewu
Ye, Xingnong
Chen, Dan
Jin, Jie
Huang, Jian
Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title_full Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title_fullStr Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title_full_unstemmed Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title_short Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation—a case report
title_sort co-existence of myeloproliferative neoplasias and β-thalassemia with ivs-2-654 mutation—a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798331/
https://www.ncbi.nlm.nih.gov/pubmed/35117557
http://dx.doi.org/10.21037/tcr.2020.01.48
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