Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research to advance the health of people with inherited bleeding disorders with the potential to menstruate
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2023.2175660
Abstract: ABSTRACT Background People who have or had the potential to menstruate (PPM) with inherited bleeding disorders (BD) face particular challenges receiving appropriate diagnosis and care and participating in research. As part of an initiative to… read more here.
Keywords: health; inherited bleeding; biology; bleeding disorders ... See more keywords
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders
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DOI: 10.1080/17474086.2023.2175661
Abstract: ABSTRACT Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation for optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of… read more here.
Keywords: rare inherited; inherited bleeding; ultra rare; bleeding disorders ... See more keywords
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: facilitating research through infrastructure, workforce, resources and funding
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DOI: 10.1080/17474086.2023.2181781
Abstract: ABSTRACT Background The National Hemophilia Foundation (NHF) conducted extensive, inclusive community consultations to guide prioritization of research in coming decades in alignment with its mission to find cures and address and prevent complications enabling people… read more here.
Keywords: inherited bleeding; infrastructure workforce; bleeding disorders; infrastructure ... See more keywords
Diagnosis of inherited bleeding disorders in the genomic era
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DOI: 10.1111/bjh.14796
Abstract: Inherited bleeding disorders affect between 1 in 1000 individuals for the most common disorder, von Willebrand Disease, to only 8 reported cases worldwide of alpha‐2‐antiplasmin deficiency. Those with an identifiable abnormality can be divided into… read more here.
Keywords: diagnosis inherited; inherited bleeding; bleeding disorders; disorders genomic ... See more keywords
Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders
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DOI: 10.1111/ejh.13941
Abstract: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter‐individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals.… read more here.
Keywords: rare inherited; inherited bleeding; rare coagulation; management ... See more keywords
Risk‐based management of dental procedures in patients with inherited bleeding disorders: Development of a Dental Bleeding Risk Assessment and Treatment Tool (DeBRATT)
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DOI: 10.1111/hae.13122
Abstract: Successful outcomes in dental management for patients with inherited bleeding disorders require close collaboration between haematology teams and dentists. read more here.
Keywords: risk; inherited bleeding; bleeding disorders; management ... See more keywords
Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper
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DOI: 10.1111/hae.13637
Abstract: This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had… read more here.
Keywords: inherited bleeding; bleeding disorders; paper; good practice ... See more keywords
Antithrombotic therapy management in patients with inherited bleeding disorders and coronary artery disease: A single‐centre experience
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DOI: 10.1111/hae.13904
Abstract: Improvement of life expectancy in patients with haemophilia A (HA), haemophilia B (HB) and von Willebrand disease (VWD) has led to a rising of age-related comorbidities, specifically coronary artery disease. The safety and efficacy of… read more here.
Keywords: inherited bleeding; bleeding disorders; coronary artery; disease ... See more keywords
Genetic screening of children with suspected inherited bleeding disorders
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DOI: 10.1111/hae.13948
Abstract: Genetic screening using high‐throughput DNA sequencing has become a tool in diagnosing patients with suspected inherited bleeding disorders (IBD). However, its usefulness and diagnostic efficacy in children is unclear. read more here.
Keywords: genetic screening; inherited bleeding; bleeding disorders; suspected inherited ... See more keywords
Patient‐reported outcomes in autosomal inherited bleeding disorders: A systematic literature review
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DOI: 10.1111/hae.14492
Abstract: Currently, it is unknown which patient‐reported outcomes are important for patients with autosomal inherited bleeding disorders. Therefore, the purpose of this study is to systematically review the available literature assessing patient‐reported outcomes and their measurement… read more here.
Keywords: inherited bleeding; bleeding disorders; patient reported; autosomal inherited ... See more keywords
Building the blueprint: Formulating a community‐generated national plan for future research in inherited bleeding disorders
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DOI: 10.1111/hae.14588
Abstract: Decades of inherited bleeding disorders (BD) research transformed severe haemophilia from a childhood killer to a disorder managed across a full lifespan for many in economically developed countries. Health equity, a life unimpaired by disease… read more here.
Keywords: formulating community; inherited bleeding; building blueprint; bleeding disorders ... See more keywords