High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders

Khan, AO; Maclachlan, A; Lowe, GC; Nicolson, PLR; Ghaithi, RA; Thomas, SG; Watson, SP; Pike, JA; Morgan, NV

Journal article

High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders

Abstract:: High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disordersBleeding disorders are an extremely heterogeneous group of conditions presenting a unique diagnostic challenge. While the gold-standard platelet function assay is light transmission aggregometry, platelet defects are only detected in approximately 50% of patients with a clinical history of bleeding consistent with a platelet disorder. We tested a cohort of patients recruited to the UK-GAPP (Genotyping and Phenotyping of Platelets) study with a suspected platelet function disorder using a highthroughput platelet spreading assay. We detected a platelet spreading defect in 32 out of 55 patients tested (58%), and of these, 16 presented with normal lumiaggregometry results despite a significant Bleeding Assessment Tool (BAT) score. Furthermore, a family identified through this approach was subsequently identified as carrying a rare genetic variant of TUBB1, a gene linked to macrothrombocytopenia. This work suggests that morphological defects detected through a high-content platelet spreading approach can identify platelet dysfunctions not detected by lumiaggregometry. Platelet function disorders are a heterogeneous group of conditions whose clinical and laboratory diagnosis is complicated by the range of reported bleeding symptoms, as well as functional redundancy within platelet signaling pathways. To address this, patients with suspected inherited bleeding disorders are often recruited for haematologica 2020; 105:e124 29.

Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Khan, A. O., Maclachlan, A., Lowe, G. C., Nicolson, P. L. R., Ghaithi, R. A., Thomas, S. G., Watson, S. P., Pike, J. A., & Morgan, N. V. (2019). High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders. Haematologica, 105(3), e124–e128.

MLA Style

Khan, AO, et al. “High-Throughput Platelet Spreading Analysis: a Tool for the Diagnosis of Platelet-Based Bleeding Disorders.” Haematologica, vol. 105, no. 3, 2019, pp. e124–e128.

Chicago Style

Khan, AO, A Maclachlan, GC Lowe, et al. 2019. “High-Throughput Platelet Spreading Analysis: a Tool for the Diagnosis of Platelet-Based Bleeding Disorders.” Haematologica 105 (3): e124–e128.
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