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    Oral Communication

    Hemophilia and Rare Bleeding Disorders
    Oral Communication Session

    OC 75 - Rare Bleeding Disorders II

    Wednesday, June 28, 2023
    10:15 – 11:30 ET
    Room:510

    Session Available Online As: On-Demand

    Presentations:

    • 10:15 – 10:30 ET
      First US Rare Bleeding Disorder Genotype-Phenotype Registry (ATHN 10) Discovers Many Individuals with Both Novel and Multiple Variants Using a Customized 30-Gene Next-Generation Sequencing Panel

      Presenting Author: Diane Nugent, MD (she/her/hers) – CHOC Childrens and Center for Inherited Blood Disorders

      Co-Author: Shirley Williams – CHOC Childrens Hospital and UC Irvine

      Co-Author: Christina Ashburner – Center for Inherited Blood Disorder

      Co-Author: Nicole Crook – Center for Inherited Blood Disorders

      Co-Author: Haduwa Momoh – American Thrombosis and Hemostasis Network

      Co-Author: Michael Recht, MD, PhD, MBA (he/him/his) – National Hemophilia Foundation

      Co-Author: Martin Chandler – American Thrombosis Hemostasis Network

      Co-Author: Amy Shapiro – Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA

    • 10:30 – 10:45 ET
      Obstetrical complications in hereditary fibrinogen disorders: the Fibrinogest Study

      Co-Author: Justine Hugon-Rodin, MD PhD (she/her/hers) – Gynecology department, Gynaecological Endocrinology Unit, Hospital Saint Joseph, Paris Division of Gynecology, University Hospitals of Geneve, Geneva, Switzerland

      Co-Author: Camille Carrière – Gynecology Department, Bigorre Hospital Center, Tarbes, France

      Co-Author: Nathalie Trillot – Lille University, CHU, Department of Haematology and Clinical Haemostasis Unit, Lille, France

      Co-Author: Nicolas Drillaud – CRC-MHC, CHU Hôtel-Dieu

      Co-Author: Christine Biron – Haemophilia Treatment Centre, University Hospital, Montpellier, France

      Co-Author: Virginie Barbay – Haemophilia Treatment Centre, University Hospital, Rouen, France

      Co-Author: Pierre Chamouni – Haemophilia Treatment Centre, University Hospital, Rouen, France

      Co-Author: Cécile Lavenu Bombled – Service d’hématologie biologique, Centre de Ressources et Compétences Maladies Constitutionnelles rares, CHU Bicêtre, AP-HP, Université Paris-Saclay et UMR S1176 INSERM, Le Kremlin-Bicêtre, France

      Co-Author: Aurélien Lebreton – Service d’hématologie, CHU Clermont-Ferrand, Hôpital Estaing

      Co-Author: Anna Wieland – Department of Hematology and Central Hematology Laboratory, Bern University Hospital, University of Bern, Switzerland

      Co-Author: Mouhamed D Moussa – Pôle d’Anesthésie-Réanimation, CHU Lille, F59000, Lille, France.

      Co-Author: Thomas Brungs – Haemostasis and Thrombosis Unit, CHR Orleans, Orleans, France

      Co-Author: Brigitte Tardy, MD PhD – Université Jean Monnet Saint-Étienne, CHU Saint-Étienne, Centre de traitement de l'hémophilie, Mines Saint-Etienne, INSERM, SAINBIOSE U1059, F-42023 SAINT-ÉTIENNE, FRANCE

      Co-Author: Céline Desconclois – Biological Hematology, Antoine Béclère Hospital, AP-HP, Paris-Saclay University, Clamart, France

      Co-Author: Philippe Beurrier – Hemophilia Treatment Center, Vascular and Coagulation Clinic, University Hospital Angers, France

      Co-Author: Valérie Gay – Hemophilia Treatment Center, Hospital, Chambéry, France

      Co-Author: Ségolène Clasyssens – Haemophilia Treatment Centre, University Hospital, Toulouse, France

      Co-Author: Emmanuel De Maistre – Hématologie Biologique, CHU, Dijon

      Co-Author: Tomas Simurda, MD, PhD. – National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Slovakia

      Presenting Author: Alessandro Casini, MD – Division of Angiology and Hemostasis, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland

    • 10:45 – 11:00 ET
      Phenotype and genotype characterization of patients with congenital fibrinogen deficiencies: a retrospective analysis of the PRO-RBDD database

      Presenting Author: Samin Mohsenian – Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan, Italy

      Co-Author: Roberta Palla – Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan, Italy

      Co-Author: Marzia menegatti, PhD – Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico and luigi villa foundation, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy

      Co-Author: Andrea Cairo – Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center

      Co-Author: Anna Lecchi – Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico and luigi villa foundation, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy

      Co-Author: Alessandro Casini, MD – Division of Angiology and Hemostasis, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland

      Co-Author: Marguerite Neerman-Arbez – Department of Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland

      Co-Author: Rosanna Asselta – IRCCS Humanitas Research Hospital, Milan, Italy

      Co-Author: Philippe De Moerloose – Department of Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland

      Co-Author: Flora Peyvandi, MD, PhD (she/her/hers) – IRCCS Ca' Granda Maggiore Hospital Foundation, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milano, Italy; Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milano, Italy

    • 11:00 – 11:15 ET
      Unraveling the molecular base of FXI deficiency in 96 unrelated Caucasian patients by short- and long-read based sequencing methods: biochemical, functional and clinical consequences

      Co-Author: Juan Jose Rojo-Carrillo – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Belen de la morena-Barrio, PhD – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Carlos Bravo-Perez – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Antonia Miñano – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Jose Padilla – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Rosa Cifuentes – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Ángeles Palomo Bravo – Hematology Service, Hospital Materno-Infantil de Málaga, Málaga, Spain.

      Co-Author: Vicente Vicente – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: María Luisa Lozano – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Co-Author: Javier Corral, PhD – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain

      Presenting Author: Maria Eugenia de la Morena-Barrio, PhD – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

    • 11:15 – 11:30 ET
      Prothrombin-Wauwatosa, a natural prothrombin variant with increased anticoagulant function and increased bleeding

      Presenting Author: Jeremy P. Wood, PhD – University of Kentucky

      Co-Author: Xian Li – University of Kentucky

      Co-Author: Dlovan D Mahmood – University of Kentucky

      Co-Author: Martha Sim – University of Kentucky

      Co-Author: Shawn Jobe – Michigan State University