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ISTH 2022 Congress

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

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  • ISTH 2022 Congress
    • 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

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