Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies » Platelet Function Disorders, Hereditary

Abstract Number: VPB1249

A case report of Inherited platelet function disorders caused by double site mutation of RASGRP2 gene and pedigree analysis

Q. BIAN¹, X. YANG², D. WANG¹, X. ZHOU¹

Abstract Number: PB1239

A Familial Case of MYH9 Gene Mutation Associated with Impaired Platelet Functionality and Structural Alterations

S. Safiullina¹, N. Evtugina¹, I. Andrianova¹, R. Khismatullin¹, O. Kravtsova¹, A. Khabirova¹, C. Nagaswami², A. Daminova¹, A. Peshkova³, J. Weisel⁴, R. Litvinov⁵

Abstract Number: PB1233

Association of Genetic Variability in MRVI1Gene in Patients With Arterial Thrombosis and Platelet Hyperaggregability

M. Brunclikova¹, J. Ivankova², M. Skerenova², T. Simurda³, M. Dobrotova¹, P. Holly², L. Stanciakova², M. Sterankova², I. Skornova¹, P. Kubisz¹, J. Stasko¹

Abstract Number: PB1237

Bleeding diathesis in a girl with biallelic variants in RASGRP2 gene affecting platelet CalDAG-GEFI function

J. Frontroth¹, M. Hepner², K. Downes³, C. Cervio¹, S. Annetta⁴, R. Sueldo⁵, B. Bianco⁶, G. Sciuccati⁷

Abstract Number: PB1236

Carrier detection of Glanzmann Thrombasthenia by Flow Cytometry

R. Dave, T. Geevar, J. Mammen, G. Chellaiya, R. Vijayan, A. Samuel, M. Gowri, S. Nair

Abstract Number: PB1235

Clinical and mutational spectrum of inherited thrombocytopenia related to cytoskeleton protein defects.

S. Morais¹, C. Monteiro², M. Pereira³, A. Gonçalves⁴, M. Gonçalves⁵, C. Lau⁵, R. Santos⁶, E. Cruz⁷

Abstract Number: PB1244

Development of Consensus on Standardized Nomenclature for PT-VWD- Joint Project from the ISTH SSCs on Platelet Physiology, VWF and Genomics in thrombosis and Haemostasis

M. Othman¹, M. Lavin², R. Li³, A. Elsebaie¹, P. Gresele⁴

Abstract Number: PB1238

Effect of constitutive activation of the calcium sensor STIM1 on haemostasis

E. García Pérez¹, E. Arias Salgado², E. Monzón Manzano², L. Del Pino Molina³, Y. Soto Serrano⁴, P. Acuña², M. Alvarez-Román⁵, M. Martín Salces², M. Rivas Pollmar⁶, A. Dos Santos², V. Jiménez Yuste⁷, N. Butta²

Abstract Number: OC 64.5

Effect of the DIAPH1 R1213* GOF variant in actin-dependent cytoskeleton organization in megakaryocytes

V. Palma-Barqueros¹, L. Bury², A. Zamora-Canovas³, H. Kuchi Bhotla⁴, A. Sánchez-Fuentes¹, N. Revilla⁵, A. Rodríguez-Alen⁶, A. Torrecillas¹, N. Bohdan¹, V. Vicente⁷, M. Lozano⁷, J. Bastida⁸, P. Gresele⁴, J. Rivera⁹

Abstract Number: PB1232

Hermansky-Pudlak syndrome: Identification of novel variants in the genes HPS3, HPS5, and DTNBP1 (HPS-7) and analysis of lymphocyte cytotoxicity for the HPS-7 patient

D. Boeckelmann¹, M. Wolter², K. Neubauer², L. Weiss³, H. Schulze⁴, F. Sobotta², A. Lenz², H. Glonnegger², B. Käsmann-Kellner⁵, J. Mann⁶, S. Ehl⁶, B. Zieger²

Abstract Number: PB1247

High bleeding rates in delta-storage pool disease

E. Van Heerwaarde¹, R. Schutgens², A. Huisman¹, I. Kremer Hovinga³

Abstract Number: VPB1251

Identification and evaluation of novel variants associated with platelet function disorders by NGS-based high-throughput sequencing

H. Schulze¹, A. Borst², E. Klopocki², O. Andres³

Abstract Number: PB1240

Inherited Platelet Disorders Associated With Platelet Membrane Glycoproteins Abnormalities: A Portuguese Centre Experience

P. Martinho¹, C. Pinto², J. Cabral³, J. Azevedo², A. Roque², O. Lavrukhina⁴, C. Catarino⁵, F. Rodrigues⁶, E. Antunes⁷, S. Batalha⁸, S. Nobre Fernandes⁹, M. Lopes¹⁰, C. Geraldes¹¹, T. Fidalgo¹²

Abstract Number: PB1248

Integrated diagnostic workflow in two siblings with albinism and suspected Hermansky-Pudlak syndrome

V. Palma-Barqueros¹, N. Fernández-Mosteririn², C. Zaninetti³, N. Pardiñas- Barón⁴, A. Zamora-Canovas⁵, A. Sánchez-Fuentes⁶, N. Revilla⁷, A. Rodríguez-Alen⁸, A. Marin-Quilez⁹, L. Díaz-Ajenjo¹⁰, A. Torrecillas⁶, N. Bohdan⁶, J. Padilla¹¹, C. Miguel-García⁹, V. Vicente¹², M. Lozano¹², A. Greinacher¹³, J. Bastida¹⁴, J. Rivera¹⁵

Abstract Number: PB1243

ITGB3/ITGA2B-related platelet disorders: phenotypic and genetic aspects of a series of 20 families evaluated in a single centre

C. Monteiro¹, A. Gonçalves², M. Pereira³, M. Gonçalves⁴, C. Lau⁴, E. Cruz⁵, R. Santos⁶, S. Morais⁷

Abstract Number: PB1234

Novel Pathological GATA1 Variant Leads to Defective Platelet Biogenesis via Impaired Transcriptional Regulation

K. Butov¹, Z. Kondrashova², S. Obydennyi¹, A. Ignatova³, N. Podoplelova¹, M. Kurnikova¹, E. Raykina³, E. Osipova¹, G. Novichkova¹, E. Donyush², K. Machlus⁴, M. Panteleev⁵

Abstract Number: PB1246

Platelet Dysfunction in Inherited Thrombocytopenias with Predisposition to Hematologic Malignancies and its Correlation with Bleeding: Analysis of 23 Patients with RUNX1, ANKRD26, and EVT6 Mutations

I. Tesakov¹, D. Fedorova¹, G. Ovsyannikova¹, A. Martyanov², A. Ignatova¹, E. Ponomarenko¹, A. Pavlova¹, E. Raykina¹, P. Zharkov¹, N. Smetanina¹, M. Panteleev², A. Sveshnikova¹

Abstract Number: PB1241

Rotational thromboelastometry (ROTEM) in patients with bleeding of unknown cause: evidence for hemostatic imbalance

D. Mehic¹, B. Jilma², C. Schörgenhofer², M. Colling¹, C. Ay³, I. Pabinger³, J. Gebhart⁴

Abstract Number: PB1242

The phenotypic and genetic heterogeneity of Hermansky-Pudlack Syndrome

F. Santos¹, M. Coutinho¹, C. Monteiro², M. Pereira³, R. Matos¹, A. Gonçalves⁴, E. Cruz⁵, R. Santos⁶, S. Morais⁷

Abstract Number: PB1245

Uncommon arterial and venous thrombotic complications in Bernard Soulier Syndrome and Glanzmann Thrombasthenia patients

A. Sánchez-Fuentes¹, F. García-Candel², A. Nicolá-Sandoval¹, M. Varo³, A. Zamora-Canovas⁴, V. Palma-Barqueros⁵, N. Revilla⁶, A. Rodríguez-Alen⁷, A. Marin-Quilez⁸, L. Díaz-Ajenjo⁸, A. Torrecillas¹, V. Vicente⁹, M. Lozano⁹, J. Rivera¹⁰, J. Bastida¹¹