Results 111 to 120 of about 68,267 (269)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Assessing the Impact of the 2021 VWD Guidelines on the Diagnosis/Management of Low VWF Patients

Haemophilia, EarlyView.
ABSTRACT Introduction The 2021 ASH/ISTH/NHF/WFH VWD diagnosis guidelines recommend Type 1 VWD diagnoses for patients with (a) VWF <0.30 IU/mL or (b) ‘Low VWF’ 0.30–0.50 IU/mL with the presence of abnormal bleeding. This recommendation recategorizes ‘Low VWF’ patients with abnormal bleeding into Type 1 VWD.
Michael Dong, Joanna Larson, Sepideh Saroukhani, Miguel Escobar, Lakshmi Srivaths   +4 more
wiley   +1 more source

Haemophilia B: an illustrative review of current challenges and opportunities

Research and Practice in Thrombosis and Haemostasis
Background: Hemophilia B is a genetic bleeding disorder caused by a deficiency of clotting factor IX, which presents unique challenges in clinical management.
Cedric Hermans, Jan Astermark, Sonata Šaulytė Trakymienė, Víctor Jiménez-Yuste   +3 more
doaj   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Strengthening hemophilia registries globally: Strategies to improve patient outcomes

Iraqi Journal of Hematology
Hemophilia is a genetic bleeding disorder characterized by a deficiency of clotting factor VIII or IX. Hemophilia registries are structured databases that maintain longitudinal data on people diagnosed with hemophilia. Hemophilia registries maintained at
Saurabh RamBihariLal Shrivastava, Prateek Sudhakar Bobhate, Shweta Sonkusale, Neha Jaiswal   +3 more
doaj   +1 more source

Final Analysis of the Phase 1/2 Trial of Valoctocogene Roxaparvovec for Severe Haemophilia A

Haemophilia, EarlyView.
ABSTRACT Introduction Valoctocogene roxaparvovec is an adeno‐associated virus vector serotype 5 (AAV5)‐mediated gene therapy for severe haemophilia A (HA). Aim Report the final safety and efficacy results of the phase 1/2 trial of valoctocogene roxaparvovec. Methods An open‐label phase 1/2 trial (NCT02576795) enrolled adult males with severe HA (factor
Priyanka Raheja, Savita Rangarajan, Will Lester, Bella Madan, Glenn F. Pierce, Emily Symington, Carolyn Millar, Dane Osmond, Mingjin Li, Konstantia‐Maria Chavele   +9 more
wiley   +1 more source

Challenges and Opportunities in Post‐Marketing Reporting of Factor VIII Inhibitors With Efanesoctocog Alfa

Haemophilia, EarlyView.
Jennifer Dumont, Linda Bystricka, Graham Neill, Mahnouch Georget, Sriya Gunawardena, Elena Santagostino   +5 more
wiley   +1 more source

The Swiss Haemophilia Registry–Report From the First 8 Years

Haemophilia, EarlyView.
ABSTRACT Introduction Patient registries capture disease related information and provide a valuable source for real‐world data on rare diseases and their management. The Swiss Haemophilia Registry (SHR) was established in 2015 on the basis of a new Swiss federal human research act.
Alessandra Bosch, Lorenzo Alberio, Pierre Fontana, Lukas Graf, Johanna A. Kremer Hovinga, Nicolas von der Weid, Mattia Rizzi, Manuela Albisetti, the Swiss Haemophilia Network   +8 more
wiley   +1 more source

The Value of Public Inquiries, Ethical Accountability, and Patient Voices: Reflections on the Infected Blood Inquiry

Haemophilia, EarlyView.
ABSTRACT Introduction This article contributes to the continuing conversation in Haemophilia about the UK Infected Blood Inquiry (IBI). Discussion within the journal to date has largely foregrounded professional and technical perspectives. Aim This article aims to bring back into view two elements central to the Inquiry—patient voice and the roles of ...
Richard Gorman, Clive Smith, Bobbie Farsides, Emma Cave   +3 more
wiley   +1 more source

Considerations for the Use of AAV‐based Gene Therapy in HIV‐Positive Individuals With Haemophilia

Haemophilia, EarlyView.
ABSTRACT Introduction There is a high prevalence of human immunodeficiency virus (HIV) infection among the haemophilia community due to treatment in the 1970s and 1980s with contaminated clotting factor. Lifelong treatment regimens for haemophilia and HIV are burdensome alone and pose a particular challenge for individuals living with both conditions ...
Jürgen K. Rockstroh, Julia C. Stingl, Marco Stadler, Anja Reichert, Heiner Wedemeyer, Johannes Oldenburg   +5 more
wiley   +1 more source