OC 77.5 - Evaluation of the Total Thrombus formation Analysis System (T-TAS) in comparison with conventional tests, for laboratory diagnosis of inherited platelet disorders

Wednesday, June 26, 2024

11:15 – 11:30 ICT

Room: 211 A-D

Presenting Author(s)

Ana Marín-Quilez, PhD

PostDoc
Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain
Murcia, Murcia, Spain

Co-Author(s)

Pg

Pedro Luis gómez-González

Technician
Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain
Murcia, Murcia, Spain
LD

Lorena Díaz-Asenjo

PhD studeny
Departamento de Hematología, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), Salamanca, Spain
Salamanca, Castilla y Leon, Spain
TS

Teresa Sevivas

Hematologist
Blood and Transfusion Service, Universitary Hospitalar Centre, Unidade Local de Saúde de Coimbra, E.P.E., Coimbra, Portugal
Coimbra, Coimbra, Portugal
Joao Mariano pego

Facultative-Senior invetigator
Clinical Pathology Department, Centro Hospitalar e Universitário de Coimbra, Unidade Local de Saúde de Coimbra, E.P.E., Coimbra, Portugal
Coimbra, Coimbra, Portugal
NR

Nuria Revilla

Hematologist
Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, Health Research Institute-Fundación Jiménez Díaz University Hospital, (IIS-FJD), Madrid, Spain.
Madrid, Madrid, Spain
RV

Rosa Vidal

Hematologist
Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, Health Research Institute-Fundación Jiménez Díaz University Hospital, (IIS-FJD), Madrid, Spain.
Madrid, Madrid, Spain
RM

Raquel Mata

Hematologist
Servicio de Hematología y Hemoterapia del Hospital, Hospital Universitario de La Paz, Madrid, Spain
Madrid, Madrid, Spain
AM

Antonio Moscardó

Facultative-Senior invetigator
Haemostasis, Thrombosis, Arteriosclerosis and Vascular Biology Research Group, Medical Research Institute Hospital La Fe
Valencia, Comunidad Valenciana, Spain
Ana Zamora-Cánovas

PhD studeny
Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain
Murcia, Murcia, Spain
NB

Nora Butta

Researcher
Grupo de Coagulopatías y Trastornos de la Hemostasia, IdiPaz, Madrid, Spain
Madrid, Madrid, Spain
Elena G.Arias Salgado

Researcher
Grupo de Coagulopatías y Trastornos de la Hemostasia, IdiPaz, Madrid, Spain
Madrid, Madrid, Spain
EG

Eduardo García-Pérez

Hematologist
Servicio de Hematología, Hospital la Paz
Madrid, Madrid, Spain
MD

Maribel Díaz-Ricart

Facultative-Senior invetigator
Hemostasis and Erythropathology LaboratoryHematopathologyDepartment of Pathology, Centre de Diagnostic Biomedic (CDB), Hospital Clinic de Barcelona, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
Barcelona, Catalonia, Spain
MN

Meritxell Nomdedeu

Hematologist
Hemostasis and Erythropathology LaboratoryHematopathologyDepartment of Pathology, Centre de Diagnostic Biomedic (CDB), Hospital Clinic de Barcelona, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
Barcelona, Catalonia, Spain
NV

Nohelia Vilalta

Hematologist
Unit of Haemostasis and Thrombosis, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Barcelona, Catalonia, Spain
AR

Agustín Rodríguez-Alen

Hematologist
Servicio de Hematología, Hospital Universitario de Toledo, Toledo, Spain
Toledo, Castilla-La Mancha, Spain
ML

María Luisa Lozano

Hematologist
Servicio de Hematología, Hospital General Universitario Morales Messeguer, Centro Regional de Hemodonación, Universidad de Murcia, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII
Murcia, Murcia, Spain
José M Bastida

Hematologist
Departamento de Hematología, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), Salamanca, Spain. #Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC).
Salamanca, Castilla y Leon, Spain
José Rivera, PhD

Facultative-Senior investigator
Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain.#Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC) de la SETH
MURCIA, Murcia, Spain

Background: Diagnosis of inherited platelet disorders (IPD) is still challenging due to the low sensitivity and specificity of existing platelet function tests.

Aims: This study aims to assess the effectiveness of the newly developed semi-automated microchip flow-chamber system, Total Thrombus Analyzer System (T-TAS), in comparison to conventional tests for laboratory diagnosis of IPD.

Methods: The study included 75 patients previously diagnosed with 22 types of IPD, and 30 healthy donors, from 7 Spanish centers (Table 1). Platelet function tests included: PFA-100, flow-cytometry for glycoproteins and agonist-induced platelet activation and secretion (PA&S), platelet aggregometry (LTA), and T-TAS (AR, HD, PL chips). All centers used the same reagents.

Results: T-TAS_HD showed abnormalities in Bernard-Soulier Syndrome (BSS), and inherited thrombocytopenia related (RT) with SRC, GALE, DIAPH1, RUNX1, FLI1, and ANKRD26. These patients also exhibited reduced LTA and PA&S, and extended PFA-100 (excluding DIAPH1). ACTN1-RT only displayed reduced PA&S. GATA1-RT displayed abnormal LTA and PA&S but normal T-TAS_HD and PFA-100.
Monoallelic BSS (BSSm), MYH9, TUBB1, and GFI1B-RT showed normal platelet function by T-TAS_HD and conventional techniques.
T-TAS with PL chip revealed severe platelet dysfunction in BSS, SRC, GALE, DIAPH1, MYH9, RUNX1, ANKRD26, GATA1, and FLI1-RT, as with conventional tests, but also mild dysfunction in BSSm, ACNT1, TUBB1, and GFI1B-RT.
Patients with coagulopathy (von Willebrand disease -vWD-, dysfibrinogenemia, Noonan syndrome) or with known platelet dysfunction exhibited altered PA&S. Abnormal PFA-100, LTA, T-TAS_AR, and T-TAS_PL tests were found in Glanzmann Thrombasthenia, RASGRP2, GPVI-deficiency (excluding T-TAS_AR), Hermansky-Pudlak syndrome, and vWD (except LTA). LTA was also reduced in P2Y12-deficiency and Noonan. GPIbα-IX, GPIa, and GPVI levels were reduced in BSS, GALE, RUNX1, and GATA1-RT, and GPIIb/IIIa was almost absent in Glanzmann Thrombasthenia.

Conclusion(s): This multicenter study provides compelling evidence supporting the value of the T-TAS system in diagnosing IPD. The T-TAS_PL assay may enhance sensitivity in detecting mild platelet dysfunction in inherited thrombocytopenias.