Results 171 to 180 of about 87,002 (307)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

open access: yesHaemophilia, 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   +6 more
wiley   +1 more source

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

open access: yesHaemophilia, 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   +4 more
wiley   +1 more source

Health‐Related Quality of Life Among Female Carriers of Haemophilia and Non‐Carriers in a Colombian Population

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Women with haemophilia can present manifestations and experience undiagnosed symptoms, which negatively affect their health‐related quality of life (HRQoL). Objective To evaluate the HRQoL in obligate carriers of haemophilia (OCH) versus women non‐carriers of haemophilia (WNCH) in a Colombian population.
Fabian A. Manzano‐Di Zeo   +9 more
wiley   +1 more source

Seventh Åland Island Meeting on von Willebrand Disease

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024. Aim The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.
Riitta Lassila   +17 more
wiley   +1 more source

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