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- Title
Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film.
- Authors
Zaninetti, Carlo; Baschin, Marcel; Vater, Leonard; Karastaneva, Anna; Holzhauer, Susanne; Leinøe, Eva; Ørslev Rasmussen, Andreas; Wesche, Jan; Freyer, Carmen; Seidel, Markus G.; Greinacher, Andreas
- Abstract
This article discusses a study on a rare genetic disorder called ETV6-related thrombocytopenia (ETV6-RT). The study examined the platelets of twelve patients with ETV6-RT and found that they had an increased expression of the ETV6 protein, which is transferred from bone marrow megakaryocytes to platelets. The study also observed alterations in δ-granule markers in some patients, indicating a potential δ-storage pool disorder. The findings suggest that immunofluorescence microscopy can be used as a screening tool for ETV6-RT, especially in cases of mild-to-moderate thrombocytopenia with normal platelet size. However, further research is needed to confirm these findings and validate them as a specific signature of the disease.
- Subjects
BLOOD platelet disorders; BLOOD platelets; TRANSCRIPTION factors; IMMUNOFLUORESCENCE; THROMBOCYTOPENIA; LEUCOCYTES
- Publication
British Journal of Haematology, 2024, Vol 204, Issue 2, p710
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.19211