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