A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks
One of the leading thrombocytopenia occasions in childhood is immune thrombocytopenia (ITP). Small number of these patients do not respond to treatment methods known to be effective for ITP such as corticosteroids, intravenous immunoglobulin and thrombopoietin receptor agonists (eltrombopag, romiplo...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Platelets |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/09537104.2025.2500499 |
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| author | Elif Habibe Aktekin Serdar Ceylaner Şeyda Beşen Ayşe Erbay Nalan Yazıcı |
| author_facet | Elif Habibe Aktekin Serdar Ceylaner Şeyda Beşen Ayşe Erbay Nalan Yazıcı |
| author_sort | Elif Habibe Aktekin |
| collection | DOAJ |
| description | One of the leading thrombocytopenia occasions in childhood is immune thrombocytopenia (ITP). Small number of these patients do not respond to treatment methods known to be effective for ITP such as corticosteroids, intravenous immunoglobulin and thrombopoietin receptor agonists (eltrombopag, romiplostim, etc.) and have serious bleeding symptoms. We present a case in which a molecular genetic analysis was performed due to challenging responses to medical treatment for severe systemic bleeding symptoms which were similar to ITP. A hemizygous variant was detected in the GATA1 gene and a homozygous variant in the ATP2A1 gene for Brody myopathy. Eltrombopag, romiplostim, IVIG and corticosteroid were applied to resistant thrombocytopenia of the patient without knowing the cause. Patient had response in platelet counts in some occasions. This situation attracted our attention after the detection of this GATA variant in the etiopathogenesis of thrombocytopenia. Further investigations should be performed for much more rare causes of thrombocytopenia in patients with refractory thrombocytopenia attacks. |
| format | Article |
| id | doaj-art-bedabf8ce500428281e98fc6bcadeb70 |
| institution | Kabale University |
| issn | 0953-7104 1369-1635 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj-art-bedabf8ce500428281e98fc6bcadeb702025-08-20T03:48:42ZengTaylor & Francis GroupPlatelets0953-71041369-16352025-12-0136110.1080/09537104.2025.2500499A case with a novel GATA1 variant mimicking immune thrombocytopenia attacksElif Habibe Aktekin0Serdar Ceylaner1Şeyda Beşen2Ayşe Erbay3Nalan Yazıcı4Department of Pediatrics Division of Pediatric Hematology Oncology, Faculty of Medicine, Baskent University, Adana, TürkiyeDepartment of Medical Genetics, Faculty of Medicine, Lokman Hekim University, Ankara, TürkiyeDepartment of Pediatrics Division of Pediatric Neurology, Faculty of Medicine, Baskent University, Adana, TürkiyeDepartment of Pediatrics Division of Pediatric Hematology Oncology, Faculty of Medicine, Baskent University, Adana, TürkiyeDepartment of Pediatrics Division of Pediatric Hematology Oncology, Faculty of Medicine, Baskent University, Adana, TürkiyeOne of the leading thrombocytopenia occasions in childhood is immune thrombocytopenia (ITP). Small number of these patients do not respond to treatment methods known to be effective for ITP such as corticosteroids, intravenous immunoglobulin and thrombopoietin receptor agonists (eltrombopag, romiplostim, etc.) and have serious bleeding symptoms. We present a case in which a molecular genetic analysis was performed due to challenging responses to medical treatment for severe systemic bleeding symptoms which were similar to ITP. A hemizygous variant was detected in the GATA1 gene and a homozygous variant in the ATP2A1 gene for Brody myopathy. Eltrombopag, romiplostim, IVIG and corticosteroid were applied to resistant thrombocytopenia of the patient without knowing the cause. Patient had response in platelet counts in some occasions. This situation attracted our attention after the detection of this GATA variant in the etiopathogenesis of thrombocytopenia. Further investigations should be performed for much more rare causes of thrombocytopenia in patients with refractory thrombocytopenia attacks.https://www.tandfonline.com/doi/10.1080/09537104.2025.2500499Brody myopathyGATA1 variantimmune thrombocytopeniarefractory thrombocytopeniathrombopoietin receptor agonists |
| spellingShingle | Elif Habibe Aktekin Serdar Ceylaner Şeyda Beşen Ayşe Erbay Nalan Yazıcı A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks Platelets Brody myopathy GATA1 variant immune thrombocytopenia refractory thrombocytopenia thrombopoietin receptor agonists |
| title | A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks |
| title_full | A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks |
| title_fullStr | A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks |
| title_full_unstemmed | A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks |
| title_short | A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks |
| title_sort | case with a novel gata1 variant mimicking immune thrombocytopenia attacks |
| topic | Brody myopathy GATA1 variant immune thrombocytopenia refractory thrombocytopenia thrombopoietin receptor agonists |
| url | https://www.tandfonline.com/doi/10.1080/09537104.2025.2500499 |
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