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Oral Communication Session
Oral Communication Session

OC 45 - Inherited thrombocytopenia

Monday, June 24, 2024
14:45 – 16:00 ICT
Room:110 A-C

    Moderator(s)

  • Barbara Zieger, MD, MME

    Head of section of pediatric haemostaseology
    Children´s Hospital
    University Medical Center Freiburg
    Freiburg, Germany

  • Natsaruth Songthawee, MD

    Assistant Professor
    Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
    Hat Yai, Songkhla, Thailand

Presentations:

  • 14:45 – 15:00 ICT
    Clinical and laboratory assessment of inherited thrombocytopenias predisposing to malignancy in the Spanish Group for Inherited Platelet disorders (GEAPC)

    Presenting Author: Ana Marín-Quilez, PhD – 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

    Co-Author: Agustín Rodríguez-Alen – Servicio de Hematología, Hospital Universitario de Toledo, Toledo, Spain

    Co-Author: Teresa Sevivas – Blood and Transfusion Service, Universitary Hospitalar Centre, Unidade Local de Saúde de Coimbra, E.P.E., Coimbra, Portugal

    Co-Author: Nuria Revilla – Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, Health Research Institute-Fundación Jiménez Díaz University Hospital, (IIS-FJD), Madrid, Spain.

    Co-Author: Nora Butta – Grupo de Coagulopatías y Trastornos de la Hemostasia, IdiPaz, Madrid, Spain

    Co-Author: Francisca Ferrer-marín – Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad Católica de Murcia (UCAM)

    Co-Author: Mónica López-Duarte – Hospital Universitario Marqués de Valdecilla-IDIVAL, Santander, Spain

    Co-Author: Thais Murciano – Hospital Universitario Vall d'Hebron, Barcelona, Spain

    Co-Author: Laura Murillo-Sanjuán – Hospital Universitario Vall d'Hebron, Barcelona, Spain

    Co-Author: Meritxell Nomdedeu – 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

    Co-Author: Elena Sebastian – Hospital Universitario Infantil Niño Jesús, Madrid, Spain

    Co-Author: Claudia Serrano – Servicio de Hematología, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain

    Co-Author: Cristina Sierra Aisa, MD – Servicio de Hematología, Hospital Universitario de Cruces, Baracaldo, Spain

    Co-Author: María Luisa Lozano – Servicio de Hematología, Hospital General Universitario Morales Messeguer, Centro Regional de Hemodonación, Universidad de Murcia, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII

    Co-Author: José M Bastida – 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).

    Co-Author: José Rivera, PhD – 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

  • 15:00 – 15:15 ICT
    Mutations in the 5’-untranslated region of ANKRD26 result in thrombocytopenia and hematological malignancy in zebrafish

    Presenting Author: Liang Zheng, PhD – University of Kansas Medical Center

    Co-Author: Szumam Liu, PhD – University of Kansas Medical Center

    Co-Author: Noritaka Yada, MD, PhD – University of Kansas Medical Center

    Co-Author: Cindy Lin – University of Kansas Medical Center

    Co-Author: Antonia Biggnotti – University of Kansas Medical Center

    Co-Author: Mark Cunningham – University of Kansas Medical Center

    Co-Author: Long Zheng, MD, PhD – University of Kansas Medical Center

  • 15:15 – 15:30 ICT
    New α4A-tubulin (TUBA4A) variants associated with familial thrombocytopenia highlight the implication of TUBA4A in thrombopoiesis

    Co-Author: Anne Vincenot – CHU Paris Robert Debré, Paris, France

    Co-Author: Dominique Pidard – Université Paris Cité, Inserm UMR-S 1140

    Co-Author: Aurore Marchelli – Université Paris Cité, Inserm UMR-S 1140

    Co-Author: Julie Carré – Université Paris Cité, Inserm UMR-S 1140

    Co-Author: Sonia Poirault-Chassac – Université Paris Cité, Inserm UMR-S 1140

    Co-Author: Jean-Claude Bordet – UR4609 Hémostase & Thrombose, Université Claude Bernard Lyon, Lyon, France

    Co-Author: Sophie Bayart – CHU Rennes

    Co-Author: Martin Castelle – Assistance Publique-Hôpitaux de Paris

    Co-Author: Pascale Gaussem – Université Paris Cité, Inserm UMR-S1140, Hôpital Européen Georges Pompidou

    Co-Author: Marie-Françoise Hurtaud-Roux – Assistance Publique-Hôpitaux de Paris

    Presenting Author: Christilla Bachelot-Loza, PhD – Université Paris Cité, Inserm UMR-S 1140

  • 15:30 – 15:45 ICT
    Investigating a family with severe inherited thrombocytopenia reveals a novel structural variant involving ANKRD26

    Presenting Author: Ahmad Alcheikh, MBBS FRACP FRCPA – Kolling Institute, Royal North Shore Hospital

    Co-Author: Matthew McKay – Bowel Cancer Research, Kolling Institute, The University of Sydney, Sydney, NSW, Australia

    Co-Author: Nisha Singh – Cytogenetics Laboratory, NSW Health Pathology – Northern Sydney, Royal North Shore Hospital, Sydney, NSW, Australia

    Co-Author: Mark Molloy – Bowel Cancer Research, Kolling Institute, The University of Sydney, Sydney, NSW, Australia

    Co-Author: Robert Bird – Princess Alexandra Hospital

    Co-Author: Kirk Morris – Department of Cancer Care Services, Royal Brisbane and Womens Hospital, Brisbane Qld Australia

    Co-Author: Nina Raju, MSc – Queensland Health

    Co-Author: Linda Lee – Molecular Genetics Department, NSW Health Pathology – Northern Sydney, Royal North Shore Hospital, Sydney, NSW, Australia

    Co-Author: Chris Ward – Northern Blood Research Centre, Kolling Institute, Royal North Shore Hospital, Sydney, NSW, Australia

    Co-Author: William Stevenson – Haematology Department, Royal North Shore Hospital, Sydney, Australia

    Co-Author: Marie-Christine Morel-Kopp, PhD – Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia

  • 15:45 – 16:00 ICT
    Transcriptomic analysis of megakaryocytes and platelets to model inherited thrombocytopenia

    Presenting Author: Koenraad De Wispelaere, MS – Department of Genetics and Genomics, Icahn school of medicine at Mount Sinai

    Co-Author: Ernest Turro – Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

    Co-Author: Kathleen Freson – Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium

    Co-Author: Chantal Thys – KU Leuven

    Co-Author: Fabienne Ver Donck – KU Leuven

    Co-Author: Kato Ramaekers, MA – KU Leuven

    Co-Author: Koji Eto – CiRA

    Co-Author: Veerle Labarque – Department of Pediatric Hematology and Oncology, University Hospital Leuven Gasthuisberg, Leuven