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ISTH 2022 Congress

Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders

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  • ISTH 2022 Congress
    • Hemophilia and Rare Bleeding Disorders
      • Rare Bleeding Disorders

Abstract Number: PB0708

A Case of Factor VII Deficiency Presented With Repeated Rectal Bleeding

ş. şahin1, S. KHUDİYEVA2, A. UNUVAR3, D. TUGCU4, G. TANYILDIZ4, M. BILICI4, Z. KARAKAS4, S. KARAMAN4

Abstract Number: PB0711

A novel homozygous KLKB1 missense variant causative of severe Prekallikrein deficiency.

M. Mitchell1, R. Wheeler2, J. Cutler2, G. Ling3

Abstract Number: VPB0721

A Rare Case of Factor XII Deficiency Manifesting as bleeding disorder

A. KESSIRA, A. AMIRECHE, H. BROUK

Abstract Number: PB0707

An Integrated Clinical and Pathological Approach to Rare Bleeding Disorders

R. Hargreaves1, P. Thwin1, A. Riddell2, T. Yee1

Abstract Number: PB0699

Bevacizumab for refractory hereditary hemorrhagic telangiectasia

C. Almeida1, A. Sarmento1, S. Carvalho2, G. Ferreira2

Abstract Number: PB0709

Bleeding Story of An Adolescent: Factor VII Deficiency And Repeat Iliopsoas Bleeding

S. KARAMAN1, A. UNUVAR2, ş. şahin3, C. Ercan4, g. polat4, M. BILICI1, D. TUGCU1, G. TANYILDIZ1, Z. KARAKAS1

Abstract Number: PB0710

Clinical Manifestations and Bleeding Scores in Inherited Factor VII Deficiency; The first national report from Iran.

A. Khosravi1, M. Paridar2, M. Karimzadeh3, V. Takhviji4, A. Kordian5, O. Kiani Ghalehsardi6, A. Kalantari7

Abstract Number: PB0701

Comparison between Self-Administered and Clinician-Administered ISTH Bleeding Assessment Tool in RUNX1 Patient Population

E. Andrews1, H. Choo-Wosoba2, S. Kalsi3, M. Merguerian4, M. Ring5, J. Davis6, S. Steinberg7, P. Liu8, L. Cunningham8

Abstract Number: PO0042

Congenital factor XIII deficiency: a case study

A. AMIRECHE, H. BROUK

Abstract Number: PB0705

East Texas Bleeding Disorder – A Novel Bleeding Disorder

M. Escobar1, N. Rodriguez2, I. Aboshady3, E. Li3, N. Montanez3

Abstract Number: PB0700

Evaluation of Pharmacological Enhancers of Mutated Factor VII Activity ex vivo

M. Andresen1, E. Andersen1, M. Mowinckel1, B. Stavik2, P. Sandset3, M. Chollet4

Abstract Number: PB0715

Exploring diverse coagulation Factor XIII subunit expression datasets: A bioinformatic analysis

S. Singh1, M. Jamil1, O. El-maarri1, J. Oldenburg2, A. Biswas3

Abstract Number: OC 78.5

Exploring hidden bleeding phenotypes by screening FXIII and Fibrinogen genes

S. Singh1, N. Mir-Montazeri1, M. Jamil1, B. Pezeshkpoor2, A. Sharma3, j. Dodt4, P. Volkers4, E. Hethershaw5, H. Philippou6, V. Ivaskevicius7, J. Oldenburg8, A. Biswas9

Abstract Number: PB0713

Extensive Genetic Screening of Iranian FVII deficient Individuals with severe phenotype unraveled Several Novel Mutations

T. Shahani1, S. Ravanbod2, M. Faranoush3, H. Rokni-Zadeh4

Abstract Number: PB0714

Genetic and clinical characterization in 106 patients with congenital quantitative and qualitative fibrinogen deficiencies: a Slovak centre experience

T. Simurda1, J. Zolkova2, M. Sterankova3, Z. Kolkova4, D. Loderer4, M. Dobrotova2, I. Plamenova2, P. Holly2, J. Hudecek2, I. Skornova2, M. Brunclikova2, M. Grendar4, Z. Lasabova5, J. Stasko2, P. Kubisz2

Abstract Number: OC 78.4

Haemorrhagic sub-phenotypes in hereditary haemorrhagic telangiectasia are associated with high impact DNA variants in platelet/coagulation genes responsible for general population bleeding disorders

K. Joyce1, E. Onabanjo2, S. Brownlow2, F. Nur2, K. Olupona2, K. Fakayode2, M. Sroya3, G. Thomas3, T. Ferguson2, J. Redhead2, C. Millar2, N. Cooper3, M. Layton3, F. Boardman-Pretty4, M. Caulfield4, G. Research Consortium4, C. Shovlin3

Abstract Number: VPB0722

Health education needs in hematological orphan diseases for professionals, sick people and caregivers in Ibagué, Tolima

N. PERDOMO OLARTE

Abstract Number: VPB0723

Hematological orphan diseases and health literacy in sick people: State of the art

N. PERDOMO OLARTE

Abstract Number: PB0704

Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster

A. Couzens1, A. Lebreton2, F. Masclaux3, M. Guipponi3, C. Pebrel-Richard4, F. Laffargue5, P. Gembara2, A. Casini6, M. Neerman-Arbez7

Abstract Number: VPB0720

Hereditary Severe Factor XIII Deficiency in Northern region of Turkey

C. Albayrak1, D. Albayrak2

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