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. Kahr^2,3,4, S.K Westbury^1,3

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-Rivas^1,2, M. Vicente-Manzanares¹, J. Rivera^3,4, J.M. Bastida^2,4

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. Bastida^6,7, J. Rivera^2,7

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. Bastida^4,5, R. Pozo^2,5

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 Izquierdo^1,2,3, J.L. Díez-Martín^1,2,3, C. Martinez Laperche^1,2,3, G. Perez Rus^1,2,3

Abstract Number: OC 21.1

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

C. Zaninetti^1,2, 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. Panteleev^1,2,3,4, 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 Pérez^2,3,4, I. Corrales Insa^2,4, 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. Podoplelova^1,2, E. Popova^3,1, P. Zharkov², D. Fedorova², A. Greinacher⁴, M. Panteleev^1,2,3

Abstract Number: PB0867