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ISTH 2021 Congress

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

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  • ISTH 2021 Congress
    • Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
      • Inherited Thrombocytopenias

Abstract Number: PB0868

Assigning Pathogenicity to a Novel de Novo ACTN1 Variant in a Child with Macrothrombocytopenia: A Case Description And Review of Previously Identified Variants

L. FitzGibbon1, V. Bouskill2, M. Carcao2, L. Li3, F.G Pluthero3, W.H. Kahr2,3,4, S.K Westbury1,3

Abstract Number: OC 31.4

Characterization of a New Family with Lifelong Macrothrombocytopenia Caused by a Novel Nonsense Variant in TPM4

A. Marín-Quílez1, C. Fernández-Infante1, M.Á. Manrique Gonzalo2, C. Llorente-González1, M. Millán-Salanova1, S. Santos-Mínguez1, C. Miguel-García1, I. Rodríguez-Iglesias1, F. López-Cadenas2, T. González2, V. Palma-Barqueros3, R. Benito1, M. Díez-Campelo2, J.R. González-Porras2, J.M. Hernández-Rivas1,2, M. Vicente-Manzanares1, J. Rivera3,4, J.M. Bastida2,4

Abstract Number: OC 31.2

Clinical and Biological Assessment of the Largest Family with SRC-RT due to p.E527K Gain-of-Function Variant

N. Revilla1, V. Palma-Barqueros2, A. Galera3, C. Zaninetti4, N. Bohdan2, A. Rodriguez-Alén5, A. Sánchez-Fuentes2, A. Marin-Quilez6, A. Zamora-Canovas2, V. Vicente2, A. Greinacher4, M.L. Lozano2, J.M. Bastida6,7, J. Rivera2,7

Abstract Number: LPB0080

Clinical and Biological Assessment of the Second Pedigree Affected with X-linked GATA-1 Related Thrombocytopenia and Blood Group Lutheran Null

A. Rodriguez-Alén1, V. Palma-Barqueros2, N. Rollón-Simón1, N. Revilla3, N. Bohdan2, J. Padilla2, A. Zamora-Cánovas2, A. Marín-Quílez4, A. Sánchez-Fuentes2, J.R. González-Porras4, V. Vicente2, J. Cuesta1, M.L. Lozano2, J.M. Bastida4,5, R. Pozo2,5

Abstract Number: PB0873

Clinical Application of Genetic Testing in Patients with Not Acquired Thrombocytopenia: One Center Experience

P. Silva de Tena1, M. Argüello-Tomás1, C. Pascual Izquierdo1,2,3, J.L. Díez-Martín1,2,3, C. Martinez Laperche1,2,3, G. Perez Rus1,2,3

Abstract Number: OC 21.1

Diagnosing Inherited Platelet Disorders: Immunofluorescence on the Blood Smear in Comparison with Genetic Testing

C. Zaninetti1,2, J. Rivera3, E. Leinøe4, E. Zetterberg5, J.M. Bastida6, M. Rossing7, M. Wolff1, C. Freyer1, A. Greinacher1

Abstract Number: PB0870

Disturbed Platelet Activation in Children with ANKRD26-associated Thrombocytopenia

D. Polokhov1, D. Fedorova1, A. Pshonkin1, A. Ignatova1, E. Ponomarenko1, M. Aleksenko1, I. Mersiyanova1, E. Seregina1, K. Voronin1, A. Poletaev1, E. Raykina1, M. Panteleev1,2,3,4, P. Zharkov1.

Abstract Number: PB0871

Evaluation of the Sialidase Inhibitor Oseltamivir in GNE-associated Thrombocytopenia

M. Fager Ferrari1, K.I. Smolag2, E. Zetterberg1, E. Leinoe3, T. Ek4, A.M. Blom2, M. Rossing5, M. Martin2

Abstract Number: PB0874

Evolution over 50 Years of a Patient with Undiagnosed Gray Platelet Syndrome

A. Peleteiro Raíndo1, E. Mellid Fernández1, A. De Andrés y Jacob1, A. Abuin1, J.Á. Díaz Arias1, E. Fontanes Trabazo1, M.D. Vilariño López1, A. Mosquera Orgueira1, N. Alonso Vence1, L. Bao Pérez1, P. Cadahía Fernández1, R. Ferreiro Ferro1, P. Melero Valentín1, M. Cid López1, F. Vidal Pérez2,3,4, I. Corrales Insa2,4, J.L. Bello López1

Abstract Number: PB0872

Immunofluorescence Staining of Blood Smears for the Diagnostics of Platelet Disorders: A Single-center Experience in a Pediatric Hospital

N. Podoplelova1,2, E. Popova3,1, P. Zharkov2, D. Fedorova2, A. Greinacher4, M. Panteleev1,2,3

Abstract Number: PB0867

Investigations of the Impact of Sialidase-mediated Changes on Bleeding Using a Humanized in vivo Mouse Model

L. Pelzl1, A. Singh1, J. Zlamal1, I. Marini1, K. Althaus1,2, T. Bakchoul1,2

Abstract Number: PB0869

Targeted Next Generation Sequencing for the Diagnosis of Patients with Inherited Thrombocytopenias

O. Gilad1, O. Steinberg - Shemer1, O. Dgany2, T. Krasnov2, S. Noy - Lotan2, J. Yacobovich1, H. Tamary2,1

Abstract Number: PB0875

The Analysis of Platelet Functional Activity in Patients with Thrombocytopenia

M. Reshetova1, A. Poletaev1, E. Seregina1,2, D. Polokhov1

Abstract Number: PB0866

The Copenhagen Founder Variant GP1BA c.58T>G is Causal of Monoallelic Bernard-Soulier Syndrome

E. Leinøe1, N. Broens1, A.O. Rasmussen2, M. Gabrielaite2, S. Rosthoej3, E. Zetterberg4, S.R. Ostrowski5, M. Rossing2

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