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-Luceros^4,5

Abstract Number: PB0896

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

J.M. Bastida^1,2,3,4, D. Boeckelmann^5,6, V. Palma-Barqueros^7,8, M. Wolter^5,6, M.L Lozano^7,8, H. Glonnegger^5,6, R. Benito^2,3, F.H Schilling⁹, N. Morgan¹⁰, K. Freson¹¹, J. Rivera^7,8,4, B. Zieger^5,6

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. Jackson^4,5, 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. Batsuli^1,2

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. Negrier^1,2, S. Le Quellec^1,2

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. Otto^4,5, 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-Luceros^3,2

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. Lazzareschi^2,3, M. Capurso², R. Onesimo², C. Leone², A. Romano², M. Mele², G. Zampino^2,3, 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. Poon^1,2, R. d’Oiron³, S. Baby⁴, R.B Zotz^5,6, 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