Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies » Inherited Thrombocytopenias

Abstract Number: PB0334

A novel R1162S variant in MYH9 alters the biochemical interactions and dynamics of NMMHC-IIA, induces severe macrothrombocytopenia and perturbs leukocyte function and cellular coherence

C. Llorente-González¹, M. Millán-Salanova¹, A. Marin-Quilez², L. Díaz-Ajenjo², S. Santos-Mínguez², C. Miguel-García², R. Benito², J. González-Porras³, J. Rivera⁴, M. Vicente-Manzanares¹, J. Bastida⁵

Abstract Number: PB0331

Bleeding tendency in thrombocytopenic patients due to impaired defects in primary and secondary hemostasis

N. Buntsma¹, A. Gasecka², S. Talsma³, J. Rytel⁴, K. Mądry⁴, G. Basak⁴, E. van der Pol⁵, R. Nieuwland⁶

Abstract Number: PB0338

Efficacy comparison and safety analysis of megadose recombinant human thrombopoietin(rhTPO) in the treatment of immune thrombocytopenia (ITP)

X. Wang

Abstract Number: PB0337

Identification and characterisation of ANKRD26-related thrombocytopenia in patients from the GAPP cohort.

H. Vyas¹, G. Lowe², N. Morgan¹

Abstract Number: PB0339

Interference with dendritic cells by siRNA-CD83 can reverse the polarization of Th1/Th2 and Treg/Th17 in ITP patients

X. Wang

Abstract Number: OC 64.4

Modeling gray platelet syndrome: longitudinal mouse studies and in vitro human iPSC-derived megakaryocytes to investigate clinical and cellular features

J. Collins¹, L. Mayer¹, L. Kollipara², A. Sickmann³, H. Zhou⁴, G. Hoffman⁵, W. Erber⁵, C. Ghevaert¹, W. Ouwehand⁶, J. Guerrero¹

Abstract Number: OC 64.3

Novel GNE gene variants associated with severe congenital thrombocytopenia and platelet sialylation defect – follow up data after hematopoietic stem cell transplantation

B. Zieger¹, D. Boeckelmann², W. Anani³, H. Falet⁴, J. Zhu³, H. Glonnegger¹, H. Full⁵, F. Andresen¹, M. Erlacher¹, E. Lausch⁶, S. Fels¹, B. Strahm¹, P. Lang⁷, K. Hoffmeister⁸

Abstract Number: PB0336

Phenotypic and genetic features of thirteen families with variants in GP1BA, GP1BB and GP9 genes

C. Monteiro¹, M. Pereira², M. Gonçalves³, A. Gonçalves⁴, C. Lau³, E. Cruz⁵, S. Morais⁶, R. Santos⁷

Abstract Number: OC 64.2

Platelet RNA sequencing and generation of an imMKCL-based cell model for SLFN14 K219N deficiency show evidence of increased cellular stress

F. Ver Donck¹, K. Ramaekers¹, C. Thys¹, K. Peerlinck², C. Van Geet³, K. Eto⁴, V. Labarque³, K. Freson¹

Abstract Number: PB0333

Quantification of platelet Filamin A by flow cytometry and immunofluorescence does not support the pathogenicity of FLNA missense compared to nonsense variants.

M. Ibrahim-Kosta¹, M. Poggi², V. Sbarra², C. Falaise³, N. Hezard⁴, G. Mourey⁵, F. NEDELEC-GAC⁶, M. Fiore⁷, N. Saut⁸, E. Tomeï⁹, M. Alessi², P. Saultier¹

Abstract Number: PB0330

Romiplostim (Nplate) Use for Thrombocytopenia at a Large Academic Medical Center

A. Wong, E. Xiang, F. Cirrone, J. Papadopoulos, T. Ahuja

Abstract Number: PB0335

The GFI1B c.503G>T; p.(Cys168Phe) variant – a diagnostic conundrum.

M. Mitchell¹, R. Wheeler², J. Cutler²

Abstract Number: PB0332

The role of thrombopoietin receptor agonists in preventing surgical bleeding in patients with inherited thrombocytopenia

M. Carneiro¹, E. Silva¹, A. Ferreira², M. Oliveira¹, M. Coutinho¹, E. Cruz³, S. Morais⁴

Abstract Number: OC 64.1

The VarioPath project: Determining effect sizes of pathogenic variants in platelet disorder genes, using clinical data from 0.5M whole exome sequenced UK Biobank participants

J. Collins¹, L. Stefanucci², M. Sims³, K. Freson⁴, E. Bruford², K. Megy², D. Vuckovic⁵

Abstract Number: PB0340

Treatment by Line in Patients With Persistent and Chronic Immune Thrombocytopenia, A Real-World Point-In-Time Study

M. Cooney¹, S. Chang², M. Isaila³, I. Leunikava⁴, J. DeCourcy⁵, K. Lewis⁵, S. Libby⁵, S. Zalpuri⁶