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    Poster Networking

    Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies

    Poster Networking Session

    PB0818 - Impact of ABO Blood Group Genotype on VWF Level in carriers of Type 3 von Willebrand disease from the French von Willebrand Disease Reference Center

    Monday, June 26, 2023
    18:30 – 19:30 ET
    Room: Exhibition

      Presenting Author(s)

    • Caroline Kitel, PharmD

      Pharmacy resident
      Lille University Hospital, Hematology Transfusion, 59000, Lille, France
      Lille, Nord-Pas-de-Calais, France

      • Co-Author(s)

    • EJ

      Emmanuelle Jeanpierre

      PharmD
      Lille University Hospital, Hematology Transfusion, 59000, Lille, France
      LILLE, Nord-Pas-de-Calais, France

    • PB

      Pierre Boisseau

      PhD
      CHU Nantes, Service de Génétique Médicale, Nantes, France
      Nantes, Pays de la Loire, France

    • CT

      Catherine Ternisien

      MD
      Nantes University, CHU, Haemostasis Clinical Center, Nantes, France
      Lille, Pays de la Loire, France

    • MD

      Maximilien DESVAGES

      PharmD
      Lille University Hospital, Hematology Transfusion, 59000, Lille, France
      LILLE, Nord-Pas-de-Calais, France

    • Antoine Rauch (he/him/his)

      Associate Professor
      Univ.Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1011-EGID, F-59000 Lille, France
      Lille, Nord-Pas-de-Calais, France

    • CP

      Camille Paris

      MD
      Hematology Transfusion, Lille Hospital University, 59000, Lille, France
      Lille, Nord-Pas-de-Calais, France

    • Melanie Daniel, MD

      MD
      Hematology Transfusion, Lille Hospital University, 59000, Lille, France
      Lille, Nord-Pas-de-Calais, France

    • SG

      Sandrine Geffroy

      PhD
      Lille University Hospital, Hematology Transfusion, 59000, Lille, France
      Lille, Nord-Pas-de-Calais, France

    • ND

      Nicolas Duployez

      PharmD, PhD
      UMR 9020-UMR-S 1277, Canther, Cancer Heterogeneity, plasticity and resistance to therapies, Institut de Recherche contre le Cancer de Lille, University Lille, CNRS, inserm, CHU-Lille, F-59000 Lille, France
      Lille, Nord-Pas-de-Calais, France

    • JG

      Jenny Goudemand

      MD, PhD
      Hematology Transfusion, Lille Hospital University, 59000, Lille, France
      Lille, Nord-Pas-de-Calais, France

    • PM

      Pierre-Emmanuel Morange, MD, PhD

      MD, PhD
      Aix-Marseille Univ, INSERM, INRAE, C2VN, Laboratory of Haematology, Hôpitaux de Marseille, Marseille, France
      Marseille, Provence-Alpes-Cote d'Azur, France

    • CZ

      Christophe Zawadzki, PharmD PhD

      PharmD, PhD
      Lille University, CHU, Department of Haematology, Lille, France
      Lille, Nord-Pas-de-Calais, France

    • Sophie Susen, MD, PhD (she/her/hers)

      MD, PhD
      Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1011- EGID, F-59000 Lille, France
      Lille, Nord-Pas-de-Calais, France

    Background: Genetic variants of VWF gene and glycosylation mechanisms are major regulators of von Willebrand factor (VWF) expression. ABO blood group is known to influence expression of VWF and factor VIII (FVIII). It was recently described in venous thrombosis that A2 and O2 subgroups corresponding to lower level of glycosylated VWF were associated to lower levels of VWF than A1 and O1 respectively. In obligate carriers of von Willebrand disease type 3 (VWD3C), the same causative VWF variant can cause a wide range of heterogeneity in VWF levels and bleeding scores between affected family-members leading to different diagnosis.

    Aims: The aim was to study the impact of ABO genotyping on VWD diagnostic on top of the VWF sequence variant in a selected population of VWD3C.

    Methods: Using Next Generation Sequencing, we genotyped 102 VWD3C (24±14years) included in the French von Willebrand Disease Reference Center (CRMW) to determine their causative VWF gene defect but also their ABO group and subgroup diplotypes.

    Results: VWD3C shown significantly lower levels of VWF antigen (VWF:Ag) in O than in A and B groups (p < 0.004) and significantly lower in A2O1 diplotype than A1O1 (p=0.02) and in O1O2 than O1O1 (p=0.03) (Figure). There was no difference between A2O1 and O1O1. The average age was not significantly different between the diplotypes. Twenty six % of O1O1 and 31% of A2O1 had VWF:Ag < 30IU/dL while only 11% of A1O1 and none of A1A1 diplotypes had VWF:Ag < 30IU/dL. The same differences were observed for FVIII but not VWF:RCo activity.

    Conclusion(s): This study emphasizes that ABO subgroups play a supplementary deleterious effect to causative VWF gene variant on VWF expression in VWD3C. The molecular determination of ABO diplotype rather than serological is of interest to explain VWF level heterogeneity in VWD3C and its benefit in other VWD could also be evaluated.