Platelet Disorders and von Willebrand Disease » Inherited Thrombocytopenias

Abstract Number: PB1453

Ex vivo Observation of Platelet-granulocytes Interactions in Pediatric Patients with Congenital Platelet Defects

D. Morozova¹, A. Martyanov^2,3, D. Fedorova³, P. Zharkov³, M. Panteleev^2,3, A. Shcherbina³, A. Sveshnikova^2,3,4

Abstract Number: PB1434

A Novel Missense Mutations of the WASp Gene Cause a Familial X-linked Thrombocytopenia

H. Liu¹, J. Ma¹, R. Wu²

Abstract Number: PB1449

Bernard – Soulier Syndrome (BSS): From Identification of the Variants to their Functional Studies

G. Fontana¹, T. Giangregorio², D. De Rocco², E. Valencic², P. Noris³, S. Barozzi³, V. Bozzi³, C. Balduini⁴, A. Pecci³, F. Lanza⁵, A. Savoia^1,2

Abstract Number: PB1440

Clinical Use of Carica Papaya Leaf Extract in Thrombocytopenia in Bernard-Soulier Syndrome

O. El Safi¹, M. Fathy¹, S. Osama², A. Osama³, S. Al Auch³

Abstract Number: PB1438

Clinical, Morphological and Functional Platelet Tests in Inherited Thrombocytopenia

F. Gonçalves¹, F. Vasconcelos², E. Cruz³, M. Pereira³, M. Carmona⁴, S. Esteves⁵, I. Freitas⁶, M. Lima³, S. Morais³

Abstract Number: PB1445

Determination of the Genotype of von Willebrand Disease Type 3

D. Provazníková¹, F. Mareček¹, F. Oyen², V. Geierová³, J. Loužil³, A. Radovská¹, M. Šimoníková¹, R. Schneppenheim², P. Salaj³, I. Hrachovinová¹

Abstract Number: PB1437

Diagnosis of Inherited Platelet Disorders on a Blood Smear: The One-Year Experience of a Reference Laboratory

C. Zaninetti^1,2, M. Baschin², C. Freyer², A. Greinacher²

Abstract Number: PB1435

Diagnostic Approach to Inherited Thrombocytopenias in a Low-Income Setting

A.C. Glembotsky^1,2, N.P. Goette¹, C.P. Marin Oyarzún^1,2, C. Baroni Pietto^1,2, D. Ayala^1,2, D. Altuna³, M.E. Arrieta⁴, N. Basak⁵, S. Bonacorso⁶, A. Brodsky⁶, H. Donato⁷, J.D. Korin⁸, P. Lagrotta⁹, F. Negro¹⁰, C. Ponzinibbio¹¹, E. Veber¹², A. Savoia^13,14, A. Pecci¹⁵, R.F. Marta^1,2, P.G. Heller^1,2

Abstract Number: PB1451

First Autosomal Recessive Variant in TUBB1 Impairs Proplatelet Formation and Results in Inherited Macrothrombocytopenia

V. Palma-Barqueros¹, L. Bury², N. Bohdan³, J.M. Bastida⁴, A. Rodriguez-Alen⁵, J.F. Ruiz-Pividal³, N. Revilla³, A. Marin-Quilez⁴, V. Vicente³, M.L. Lozano³, P. Gresele², J. Rivera³

Abstract Number: PB1444

Flow Cytometry of Platelets: A Way for Distinguishing Patients with MYH9-related Disease from Patients with Other Inherited Thrombocytopenias and Immune Thrombocytopenia

D. Fedorova¹, A. Ignatova¹, D. Polokhov¹, E. Ponomarenko¹, M. Panteleev², P. Zharkov¹

Abstract Number: PB1439

Genotypic Analysis at Transition from Idiopatic Thrombocytopenic Purpura to Inherited Trombocytopenia

C. Albayrak¹, D. Albayrak², H. Gürkan³

Abstract Number: PB1436

Highly Disturbed Platelet Ultrastructure in Two Families with Novel IKZF5 Variants and Inherited Thrombocytopenia

E. Leinoe¹, M. Kjaersgaard², E. Zetterberg³, A. Greinacher⁴, M. Rossing⁵

Abstract Number: PB1452

Identification and Functional Study of a New Germline Variant in Mecom Gene

N. Papa¹, A. Marzollo², M. Faleschini³, T. Giangregorio³, M. Dall'Arche⁴, M. Gabelli^2,5, C. Tretti², A. Biffi², S. Bresolin², A. Savoia^1,3

Abstract Number: PB1450

Inherited Thrombocytopenia Associated with Haematological Malignancies

M. Faleschini¹, N. Papa², T. Giangregorio¹, F. Pozzani³, A. Pecci⁴, V. Bozzi⁴, S. Barozzi⁴, P. Noris⁴, C. Marconi⁵, M. Seri⁵, F. Giona⁶, M. Santopietro⁶, D. De Benedictis⁶, A. Savoia^1,2

Abstract Number: PB1441

MYH9-Related Inherited Thrombocytopenia: 14 Newly Diagnosed Chinese Pedigree

X. Dou, B. Sun, R. Yang

Abstract Number: PB1447

New Clues to GNE Gene Role in the Pathogenesis of Inherited Thrombocytopenias

I. Persico¹, R. Bottega², F. Faletra², T. Giangregorio², P. D'Adamo^1,2, A.M. Bianco², A. Pastore³, P. Grotto⁴, M. Gabelli⁵, A. Biffi⁵, A. Burlina⁵, A. Marzollo⁵, A. Savoia^1,2

Abstract Number: PB1443

Phenotype and Characteristics of a Cohort of Macrothrombocytopenic Patients Related to the AlphaIIbbêta3 Variants

A. Vincenot¹, S. Binard¹, T. Leblanc², J. Fadlallah³, A. Harroche⁴, C. Lavenu-Bombled⁵, G. Le Guenno⁶, E. Lengliné⁷, V. Memier⁸, F. Missud⁹, O. René¹, M.F. Hurtaud¹

Abstract Number: OC 13.5

Platelet Desialylation Affects Bleeding Tendency in Immune Thrombocytopenic Patients

I. Marini¹, J. Zlamal¹, L. Pelzl¹, K. Althaus^1,2, T. Bakchoul^1,2

Abstract Number: PB1448

Platelets Function and Cytoskeletal Organization in a Patient with a Novel Variant in ACTB Causing Macrothrombocytopenia

C. Radu^1,2, A. Marzollo¹, C. Bulato², D. Snijders¹, D. Colavito³, A. Leon³, G. Perilongo¹, A. Biffi¹, P. Simioni²

Abstract Number: PB1442

Refractory Thrombocytopenia with TUBB1 Variants: Clinical Features and Responses to Eltrombopag Treatment

M. Jiang¹, G. Sheng², J. Yin², X. Wang², Z. Yu², C. Ruan²