Novel Findings in GNE-Related Thrombocytopenia – JTH
Journal of Thrombosis and Haemostasis (JTH) shared a post on LinkedIn about a recent article by Serena Barozzi, published in Journal of Thrombosis and Haemostasis, adding:
“Characterization of a series of patients with GNE-related thrombocytopenia: insights into pathogenesis, diagnosis, and treatment
Four new patients across three families with GNE-related thrombocytopenia were characterized, identifying three novel variants.
Platelet flow cytometry showed increased RCA-1 and ECL binding with reduced MAL-II binding, offering a simple diagnostic assay.
Despite the sialylation defect, megakaryocyte differentiation and proplatelet formation were preserved; two patients responded durably to eltrombopag.”
Title: Characterization of a series of patients with GNE-related thrombocytopenia: insights into pathogenesis, diagnosis, and treatment
Authors: Serena Barozzi, Christian A. Di Buduo, Stefania Zampieri, Federica Isidori, Simone Frisari, Giuseppe Lassandro, Marco Lunghi, Alice Martinotti, Valeria Bozzi, Tommaso Mina, Simone Cesaro, Tommaso Pippucci, Paola Giordano, Alessandra Balduini, Alessandro Pecci
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