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Association between Platelet Glycoprotein Common SNVs and Bleeding Severity in Haemophilia Patients

1University of Perugia, Department of Medicine, Section of Internal and Cardiovascular Medicine, Perugia, Italy, 2Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Servizio Malattie Emorragiche e Trombotiche, Roma, Italy, 3Università Cattolica S. Cuore, Facoltà di Medicina e Chirurgia 'A. Gemelli', Istituto di Medicina Interna e Geriatria, Roma, Italy, 4University of Freiburg, Faculty of Medicine, Medical Center, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Freiburg, Germany

Abstract Number: PB1056

Meeting: ISTH 2020 Congress

Theme: Hemophilia and Rare Bleeding Disorders » Hemophilia - Clinical

Background: Hemophilia bleeding severity is currently classified by the residual factor activity as mild (6-40%), moderate (1-5%) and severe (< 1%). This classification, however, is not an entirely reliable predictor of the bleeding phenotype of individual patients, but the reasons of this have not been clarified yet. Little information is available on the contribution of platelets to the severity of the bleeding phenotype of patients with haemophilia, but some observations suggest a possible compensating function of increased platelet reactivity in hemophilia.
Common single nucleotide variants (SNVs) of platelet receptors have been shown to account for interindividual differences in platelet reactivity among normal individuals.

Aims: To investigate if common SNVs influencing platelet reactivity have a different distribution in hemophiliacs with similar residual factor levels but with different bleeding phenotypes.

Methods: 57 patients with haemophilia A or B were enrolled and their bleeding score (BS) was calculated using the ISTH-BAT. Blood was collected in sodium citrate and DNA was extracted. SNVs of ITGB3 (rs5918), ITGA2B (rs5911), ITGA2 (rs1126643), GP6 (rs1613662) and SELP (rs6136) were analyzed by PCR and Sanger sequencing.

Results: BS was significantly lower in patients carriers of the ITGB3 rs5918 SNV (8±0.7 vs 12±1;p< 0.05), previously associated with increased platelet reactivity, and significantly higher in patients carriers of the SELP rs6136 SNV (19±2 vs 9±2;p< 0.01), previously associated with decreased platelet reactivity, despite similar residual factor levels (rs5918: 2.4±3.9 vs 2.2±1.7%, rs6136: 2.7±2.4 vs 1.8±1.9%; p=ns). Hemophilia patients with higher BS (9-34) showed a lower prevalence of the ITGB3 rs5918 SNV (13.7%, p< 0.01) than patients with lower BS (0-8; 44%, p=ns).

Conclusions: These results suggest that common genetic variants known to modulate platelet reactivity can influence the bleeding phenotype of haemophilia patients. Thus, platelets may contribute to determine clinical disease severity in hemophilia.

To cite this abstract in AMA style:

Bury L, Piroli G, Kuchi Bhotla H, Borghi M, Cesari E, Falcinelli E, De Cristofaro R, Zieger B, Gresele P. Association between Platelet Glycoprotein Common SNVs and Bleeding Severity in Haemophilia Patients [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/association-between-platelet-glycoprotein-common-snvs-and-bleeding-severity-in-haemophilia-patients/. Accessed September 24, 2023.

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