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ISTH 2020 Congress

Platelet Disorders and von Willebrand Disease » Inherited Thrombocytopenias

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Abstract Number: PB1453

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

D. Morozova1, A. Martyanov2,3, D. Fedorova3, P. Zharkov3, M. Panteleev2,3, A. Shcherbina3, A. Sveshnikova2,3,4

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. Savoia1,2

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. Zaninetti1,2, M. Baschin2, C. Freyer2, A. Greinacher2

Abstract Number: PB1435

Diagnostic Approach to Inherited Thrombocytopenias in a Low-Income Setting

A.C. Glembotsky1,2, N.P. Goette1, C.P. Marin Oyarzún1,2, C. Baroni Pietto1,2, D. Ayala1,2, 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. Savoia13,14, A. Pecci15, R.F. Marta1,2, P.G. Heller1,2

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. Gabelli2,5, C. Tretti2, A. Biffi2, S. Bresolin2, A. Savoia1,3

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. Savoia1,2

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'Adamo1,2, A.M. Bianco2, A. Pastore3, P. Grotto4, M. Gabelli5, A. Biffi5, A. Burlina5, A. Marzollo5, A. Savoia1,2

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. Althaus1,2, T. Bakchoul1,2

Abstract Number: PB1448

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

C. Radu1,2, 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

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