DOI: 10.1055/s-00000077

Seminars in Thrombosis and Hemostasis

Ausgabe 02 · Volume 51 · März 2025 DOI: 10.1055/s-015-61157 Precision Medicine in Rare Bleeding Disorders Guest Editors: Maha Othman, MD, PhD, Akbar Dorgalaleh, PhD

Preface

099
Dorgalaleh, Akbar; Othman, Maha: Precision Medicine in Rare Bleeding Disorders

Review Article

103
Casini, Alessandro; Moerloose, Philippe de; Neerman-Arbez, Marguerite: Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders
111
Franchini, Massimo; Focosi, Daniele: Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency
116
Yakovleva, Elena; Zhang, Bin: Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII
128
Bernardi, Francesco; Mariani, Guglielmo: Clinical, Laboratory, and Molecular Aspects of Factor VII Deficiency
138
Menegatti, Marzia; Peyvandi, Flora: Clinical, Laboratory Aspects and Management of Factor X Deficiency
145
Davidson, Simon; Gomez, Keith: Laboratory and Molecular Diagnosis of Factor XI Deficiency
155
Dorgalaleh, Akbar; Jozdani, Sina; Zadeh, Masoumeh Kiani: Factor XIII Deficiency: Laboratory, Molecular, and Clinical Aspects
170
Perrone, Salvatore; Raso, Simona; Napolitano, Mariasanta: Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K–Dependent Coagulation Factors Deficiency
180
Tavasoli, Behnaz; Zangooie, Alireza; Safdari, Seyed Mehrab; Hoseinnezhad, Taraneh; Shabannezhad, Ashkan; Alikhani, Amirreza; Salehi, Zahra; Dorgalaleh, Akbar: Correlation between Phenotype and Coagulation Factor Activity Level in Rare Bleeding Disorders: A Systematic Review
Supplementary Material
196
Nurden, Alan T.; Nurden, Paquita: Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions
209
Kaya, Zühre: Bernard–Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management
219
Fu, Anne; Kazmirchuk, Thomas D.D.; Bradbury-Jost, Calvin; Golshani, Ashkan; Othman, Maha: Platelet-Type von Willebrand Disease: Complex Pathophysiology and Insights on Novel Therapeutic and Diagnostic Strategies
227
Al-Ghafry, Maha; Abou-Ismail, Mouhamed Yazan; Acharya, Suchitra S.: Inherited Disorders of the Fibrinolytic Pathway: Pathogenic Phenotypes and Diagnostic Considerations of Extremely Rare Disorders
236
Dorgalaleh, Akbar; Tavasoli, Behnaz; Hassani, Saeed; Ramezanzadeh, Narjes; Fathalizade, Kimia; Hashemi, Farzaneh; Feily, Zahra; Khademi, Melika; Kohzadi, Zhino; Mahalleh, Roghayeh Gholizadeh Doran; Torkamandi, Mohammad S.; Yassini, Mahya S.: The History of Rare Bleeding Disorders