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ISTH 2021 Congress

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

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  • ISTH 2021 Congress
    • Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
      • Platelet Function Disorders, Hereditary

Abstract Number: PB0904

A Novel Disease-causing Variant in the GP1BA Gene Related to Bernard Soulier Syndrome

A.I. Woods1, M.F. Alberto2, D.M. Primrose3, J. Paiva4, M. Asencio4, M.M. Casinelli4, A.N Blanco4, A. Sánchez-Luceros4,5

Abstract Number: PB0896

A Novel Hemizygous Variant in GATA1 Associated with Bleeding Diathesis and Platelet Dysfunction in Two Unrelated Patients

J.M. Bastida1,2,3,4, D. Boeckelmann5,6, V. Palma-Barqueros7,8, M. Wolter5,6, M.L Lozano7,8, H. Glonnegger5,6, R. Benito2,3, F.H Schilling9, N. Morgan10, K. Freson11, J. Rivera7,8,4, B. Zieger5,6

Abstract Number: LPB0127

Defective Platelet Endocytosis of Albumin in RUNX1 Haplodeficiency Associated with Altered Caveolin-dependent Albumin Trafficking in Megakaryocytic Cells

F. Del Carpio-Cano1, G. Mao1, MA. Alam1, J. Wurtzel2, L. Goldfinger2, A.K. Rao1

Abstract Number: LPB0082

Enrichment of Variants in Platelet Genes in Patients with Bleeding of Unknown Cause

M. Bowman1, J. Grabell1, A.D. Paterson2, M.-C. Poon3, S. Jackson4,5, D. Lillicrap6, G. Haller7, B. Sadler8, P. James1

Abstract Number: OC 47.4

Features of Aspirin-resistant Biomechanical Platelet Activation in Fibromuscular Dysplasia

R. Bhandari1, S. Shim1, M. Godwin1, A. Aggarwal1, N. Fendrikova-Mahlay1, S. Hazen1, A.P. Owens2, A. ElBadawi3, S. Cameron1

Abstract Number: PB0900

Hemorrhagic Phenotype in Pediatric Patients with Glanzmann Thrombasthenia (GT)

D. Fedorova1, E. Seregina1, A. Poletaev1, A. Pshonkin1, P. Zharkov1

Abstract Number: PB0903

Identification of ADP P2y12 Receptor Defect by Functional Assays Using Algorithmic Approach – A Case Series

R. Dave1, T. Geevar1, J. Mammen1, R. Vijayan1, A. Samuel1, S. Singh1, S. Nair1

Abstract Number: OC 21.4

Identification of Novel Variants by Panel-based High-throughput Sequencing Associated with Platelet Function Disorders

H. Schulze1, G. Manukjan1, A. Borst2, E. Klopocki2, O. Andres3, GPOH/GTH study group of Inherited Platelet Disorders

Abstract Number: PB0901

Impact of Iron Deficiency Anemia on Bleeding Management in Pediatric Patients with Bernard-Soulier Syndrome and Glanzmann Thrombasthenia: A Single-institution Analysis

A. Lee1, G. Batsuli1,2

Abstract Number: PB0899

Investigation of the Epidemiology of Inherited Platelet Disorders in Patients Attending the Royal Hospital, Muscat, Oman

R. Al Ghaithi1, S. Al Hashami1, N. Al Amri1, S. Al Shiyadi1, R. Al Lawati1, R. Al Busaidi1, H. Ambusaidi1, S. Al Lamki2, M. Al Yahyai1, M. Al Riyami1, M. Al Musalhi1, I. Al Salmi3

Abstract Number: PB0895

Light Transmission Aggregometry (LTA) on TA-8V (Stago®): What about Normal Values?

A. Dericquebourg1, M. Daniel2, J.-C. Bordet1, F. Sobas1, C. Nougier1, C. Negrier1,2, S. Le Quellec1,2

Abstract Number: LPB0081

Low Adhesion and Interaction Forces of Myh9 Mutant Platelets Lead to Impaired Clot Retraction and Unstable Thrombus Formation

J. Baumann1, L. Sachs2, Z. Nagy1, I. Schoen3, A. Greinacher2, O. Otto4,5, R. Palankar2, M. Bender1.

Abstract Number: PB0894

Modelling Studies to Characterize a Novel Disease-causing Variant in the GP1BA Gene Related to Bernard Soulier Syndrome

D.M Primrose1, A.I. Woods2, M.F Alberto3, J. Paiva3, M. Asencio3, M.M Casinelli3, A.N Blanco3, A. Sánchez-Luceros3,2

Abstract Number: PB0891

Noonan Syndrome Bleeding Diathesis: Coagulation Factor Deficiencies and/or Platelet Function Disorders?

M. Daniel1, J.-C. Bordet1, S. Girard1, A. Putoux2, S. Le Quellec2

Abstract Number: PB0892

Platelet Dysfunction in Noonan Syndrome

S. Sorrentino1, I. Lazzareschi2,3, M. Capurso2, R. Onesimo2, C. Leone2, A. Romano2, M. Mele2, G. Zampino2,3, E. De Candia1

Abstract Number: PO160

Platelet Hyperaggregability and Migraine Headache – A Single Centre Experience

M. Brunclikova1, L. Stanciakova1, J. Ivankova1, M. Skerenova2, T. Simurda1, M. Dobrotova1, P. Holly1, I. Skornova1, P. Kubisz1, J. Stasko1

Abstract Number: OC 31.3

Platelets from Patients with MYH9 Related Disorders Are Mechanically Stiffer

L. Sachs1, J. Baumann2, J. Wesche1, P. Nestler3, C. Zaninetti1, A. Greinacher1, M. Bender2, O. Otto3, R. Palankar1

Abstract Number: PB0893

The Glanzmann’s Thrombasthenia Registry (GTR): Safety of Platelet Therapy in Patients with Glanzmann’s Thrombasthenia, with a Focus on Changes in alloimmunization Status

M.-C. Poon1,2, R. d’Oiron3, S. Baby4, R.B Zotz5,6, G. Di Minno7

Abstract Number: OC 31.1

Transcription Factor RUNX1 Regulates Factor XIIIA Subunit (F13A1) Expression in Platelets and Megakaryocytic Cells: Decreased Platelet F13A1 Expression and Clot Retraction in RUNX1 Haplodeficiency

F. Del Carpio-Cano1, N. Songdej2, G. Mao3, J. Wurtzel4, L. Goldfinger4, M.P. Lambert5, AK. Rao6

Abstract Number: PB0897

Utility of Modified Ivy’s Bleeding Time and Closure Time on Platelet Function Analyzer-200 as a Screening Tool to Identify Platelet Function Disorders

R. Dave1, T. Geevar1, J. Mammen1, G. Chellaiya1, A. Samuel1, R. Vijayan1, S. Singh1, S. Nair1

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