Results 201 to 210 of about 1,366,924 (271)

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

Symptoms, Diagnosis, and Treatment for Women and Girls With Hemophilia: A Narrative Review

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Hemophilia is an X‐linked bleeding disorder previously thought to present only in men. This sentiment is rapidly changing as the information around women and girls’ experiences of bleeding symptoms has evolved, sparking intense discussion among researchers, clinicians, patients, and patient advocates regarding appropriate ...
Sam Hirniak   +6 more
wiley   +1 more source

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

open access: yes
British Journal of Haematology, EarlyView.
Victor Marin   +8 more
wiley   +1 more source

The XX Factor in Hemophilia: Diagnostic, Therapeutic, and Research Gaps for Women and Girls

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Hemophilia has traditionally been viewed as an X‐linked disorder affecting men and boys, with women and girls labeled as “carriers”, presumed to be clinically unaffected. This paradigm has contributed to under‐recognition, delayed diagnosis, and undertreatment of females with hemophilia‐associated genotypes despite an increasingly
Kelsey Uminski, Ellen Cusano
wiley   +1 more source

The Haemophilia Health Journey: Experiences and Unmet Care Needs of Caregivers and Their Young Children

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Understanding patients’ and caregivers’ experiences, values and needs is essential to implement patient‐centred care. However, specific insights into how young children with haemophilia and their caregivers experience the entire care trajectory, from diagnosis onwards, remain limited.
Caroline M. A. Mussert   +11 more
wiley   +1 more source

Perioperative von Willebrand Factor and Factor VIII Kinetics in von Willebrand Disease Patients Treated With Different Clotting Factor Concentrates

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Patients with von Willebrand disease (VWD) undergoing surgery require von Willebrand factor (VWF) and factor VIII (FVIII) supplementation for adequate haemostasis. Plasma‐derived clotting factor concentrates differ in their VWF:FVIII activity ratios: high‐ratio product (HRP, 10:1), intermediate‐ratio product (IRP, 2.4:1), and low ...
Zoë A. Gras   +2 more
wiley   +1 more source

Underdiagnosis of Von Willebrand Disease: The Silent Majority of Women in Brazil

open access: yesHaemophilia, EarlyView.
Abstract Introduction Von Willebrand disease (VWD) is the most common inherited bleeding disorder. Although autosomal inheritance predicts a similar distribution between sexes, women are more often diagnosed due to hemostatic challenges associated with menstruation and childbirth.
Yara Maria da Silva Pires   +2 more
wiley   +1 more source

Risk of Postpartum Hemorrhage in Women With Von Willebrand Disease: A Real‐World Data Analysis

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Women with von Willebrand disease (VWD) are at increased risk for postpartum hemorrhage (PPH), but contemporary United States data on maternal outcomes and real‐world peripartum treatment patterns are limited. Aim To evaluate maternal outcomes associated with claims‐recorded VWD in a national claims cohort and describe exploratory
Mayank Patel   +4 more
wiley   +1 more source

Living With Factor VII Deficiency—A Mixed Methods Study

open access: yesHaemophilia, EarlyView.
ABSTRACT Background Factor VII deficiency (FVIID) is a rare autosomal recessive disorder, resulting in potentially unpredictable and life‐threatening bleeding. The prevalence of symptomatic patients is 1 in 300,000. Treatment is mostly given following bleeding, but those with the lowest levels may be offered prophylaxis.
Simon Fletcher   +3 more
wiley   +1 more source

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