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The Swiss Haemophilia Registry-Report From the First 8 Years. 瑞士血友病登记-前8年报告。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-21 DOI: 10.1111/hae.70294
Alessandra Bosch, Lorenzo Alberio, Pierre Fontana, Lukas Graf, Johanna A Kremer Hovinga, Nicolas von der Weid, Mattia Rizzi, Manuela Albisetti
{"title":"The Swiss Haemophilia Registry-Report From the First 8 Years.","authors":"Alessandra Bosch, Lorenzo Alberio, Pierre Fontana, Lukas Graf, Johanna A Kremer Hovinga, Nicolas von der Weid, Mattia Rizzi, Manuela Albisetti","doi":"10.1111/hae.70294","DOIUrl":"https://doi.org/10.1111/hae.70294","url":null,"abstract":"<p><strong>Introduction: </strong>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. It includes patients with inherited bleeding disorders, namely haemophilia A and B, von Willebrand disease (VWD), other rare bleeding disorders, and platelet function disorders.</p><p><strong>Aim: </strong>To describe the bleeding disorder landscape in Switzerland.</p><p><strong>Methods: </strong>The SHR is an observational, prospective, longitudinal, multi-centre national registry. Individual patient data is collected annually and includes patient demographics, comorbidities, bleeding events and treatment.</p><p><strong>Results: </strong>By 2023, 929 patients were included in the SHR, with 60% diagnosed with haemophilia A, 17% with haemophilia B, and 15% with VWD. The cohort was predominantly male (87%), and 75% were adults. Median follow-up was 5.8 years (IQR 3.35-7.22). The prevalence of target joints in 2023 was 2%, with no affected children. Annual inhibitor prevalence in haemophilia patients was 1-2%. The SHR illustrates clearly the transition of prophylaxis products from plasma-derived to extended half-life factor products, and non-factor products, mirroring the global treatment evolution, and trends in individualised and patient-centred haemophilia management.</p><p><strong>Conclusion: </strong>The SHR provides real-world evidence on haemophilia care in Switzerland and documents major improvements in treatment and patient outcomes over the past decade. Future expansion will be more inclusive of VWD, rare bleeding disorders, and specifically women with bleeding disorders. This will enhance the value of the SHR as a comprehensive national resource.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Value of Public Inquiries, Ethical Accountability, and Patient Voices: Reflections on the Infected Blood Inquiry. 公众调查的价值、伦理责任和病人的声音:对感染血液调查的反思。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-20 DOI: 10.1111/hae.70296
Richard Gorman, Clive Smith, Bobbie Farsides, Emma Cave
{"title":"The Value of Public Inquiries, Ethical Accountability, and Patient Voices: Reflections on the Infected Blood Inquiry.","authors":"Richard Gorman, Clive Smith, Bobbie Farsides, Emma Cave","doi":"10.1111/hae.70296","DOIUrl":"https://doi.org/10.1111/hae.70296","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Aim: </strong>This article aims to bring back into view two elements central to the Inquiry-patient voice and the roles of law and ethics-and consider what this means for how the lessons of the IBI are interpreted in clinical and public discourse.</p><p><strong>Methods: </strong>The article engages with published reflections and commentary to consider how responsibility has been framed, how consent has been understood, and what is at stake in the shaping of professional memory.</p><p><strong>Results: </strong>The article shows how narrowed framings of consent, appeals to clinical authority, and selective uses of language risk marginalising those infected and affected. It argues that such narratives continue to shape how responsibility is allocated and how the Inquiry will be remembered within professional discourse.</p><p><strong>Conclusion: </strong>Accountability, transparency, and recognition must remain central as the implications of the Inquiry continue to unfold, and as processes of reconciliation begin.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147722688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multi-Centre Study by UK NEQAS Blood Coagulation: A Product Specific Calibrator Would Correct Assay Related Differences in Samples Containing Efanesoctocog Alfa for Multiple One Stage and Chromogenic FVIII Assay Methods. 英国NEQAS血液凝固多中心研究:一种产品特异性校定器将纠正含有Efanesoctocog Alfa的样品在多个一期和显色FVIII分析方法中的分析相关差异。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-18 DOI: 10.1111/hae.70295
Anna Williams, Chris Reilly-Stitt, Steve Kitchen, Ian Jennings, Will Lester
{"title":"Multi-Centre Study by UK NEQAS Blood Coagulation: A Product Specific Calibrator Would Correct Assay Related Differences in Samples Containing Efanesoctocog Alfa for Multiple One Stage and Chromogenic FVIII Assay Methods.","authors":"Anna Williams, Chris Reilly-Stitt, Steve Kitchen, Ian Jennings, Will Lester","doi":"10.1111/hae.70295","DOIUrl":"https://doi.org/10.1111/hae.70295","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonfactor Replacement Treatment and Surgery in Haemophilia: Evidence From the Literature and Selected Clinical Cases. 血友病的非因素替代治疗和手术:来自文献和选定临床病例的证据。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70253
Christian Carulli, Giovanna Daniele, Mathangi Kumar, Aby Abraham, Giancarlo Castaman
{"title":"Nonfactor Replacement Treatment and Surgery in Haemophilia: Evidence From the Literature and Selected Clinical Cases.","authors":"Christian Carulli, Giovanna Daniele, Mathangi Kumar, Aby Abraham, Giancarlo Castaman","doi":"10.1111/hae.70253","DOIUrl":"https://doi.org/10.1111/hae.70253","url":null,"abstract":"<p><strong>Introduction: </strong>Over the recent years, the introduction of nonfactor replacement (NFR) prophylaxis for haemophilia has allowed to reduce the burden of treatment and to offer effective prophylaxis also for patients with inhibitors, with an excellent successful prevention of spontaneous bleeding, often approaching a median annual bleeding rates close to 0. However, patients on NRF prophylaxis require traditional replacement treatment for breakthrough bleeds and to manage especially major surgery. Real-world experiences with the use of emicizumab are accumulating, showing excellent outcomes, while these are still significantly limited data available with rebalancing agents (concizumab, marstacimab and fitusiran).</p><p><strong>Aim: </strong>The present overview is focused on surgical procedures with nonfactor replacement prophylaxis.</p><p><strong>Methods: </strong>Review of the literature and report of personal experiences with the use of emicizumab and replacement treatment during surgery.</p><p><strong>Results: </strong>Combined used of emicizumab prophylaxis together with factor replacement in patients with Haemophilia A with and without inhibitors provided excellent results. Multiple elective orthopaedic procedures, oral and abdominal surgical interventions, and trauma surgery confirmed the feasibility of this combined approach, without significant side effects.</p><p><strong>Conclusions: </strong>The association of nonfactor prophylaxis with recombinant factors has provided safe, reproducible and effective results, with low rates of complications. However, the experience with rebalancing agents is still limited, and more real-world studies are needed to confirm the most appropriate approach.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Updated Diagnosis of von Willebrand Disease: Global Access, Genomic Insights and Quality Assurance. 血管性血友病最新诊断:全球获取、基因组洞察和质量保证。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70218
Omid Seidizadeh, Sukesh Nair, Ian Jennings
{"title":"Updated Diagnosis of von Willebrand Disease: Global Access, Genomic Insights and Quality Assurance.","authors":"Omid Seidizadeh, Sukesh Nair, Ian Jennings","doi":"10.1111/hae.70218","DOIUrl":"https://doi.org/10.1111/hae.70218","url":null,"abstract":"<p><strong>Background and objectives: </strong>One hundred years after its first description, major advances in laboratory science and genetics have transformed the diagnosis and clinical characterization of von Willebrand disease (VWD). This review provides an updated overview of diagnostic approaches to VWD, with emphasis on countries with limited resources, the growing role of next-generation sequencing (NGS), and insights gained from external quality assessment (EQA) programs.</p><p><strong>Key themes and discussion: </strong>First, we discuss recent developments in diagnostic testing for VWD, including the use of standardised automated assays and structured bleeding assessment tools that enhance diagnostic accuracy and reproducibility. We also propose simplified diagnostic algorithms suited to resource-limited settings, where access to specialised assays remains restricted. Second, we examine the impact of NGS on VWD diagnostics, which enables comprehensive sequencing of the large and complex VWF gene, supports subtype classification, and distinguishes VWD from phenotypically similar disorders such as platelet-type VWD and mild haemophilia A. The ongoing challenges of variant interpretation and incomplete genotype-phenotype correlation are also addressed. Finally, we summarise evidence from international EQA programs showing improved assay precision and diagnostic concordance but highlighting residual variability in laboratory interpretation and testing availability. Together, these developments illustrate a century of progress in the understanding and diagnosis of VWD, underscoring the importance of global harmonization, quality assurance and equitable access to advanced diagnostic tools.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial Intelligence in Haemophilia Care: A Narrative Review of Current Evidence and Future Opportunities. 血友病护理中的人工智能:当前证据和未来机会的叙述性回顾。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70268
Cedric Hermans
{"title":"Artificial Intelligence in Haemophilia Care: A Narrative Review of Current Evidence and Future Opportunities.","authors":"Cedric Hermans","doi":"10.1111/hae.70268","DOIUrl":"https://doi.org/10.1111/hae.70268","url":null,"abstract":"<p><p>Artificial intelligence (AI) is increasingly explored in healthcare for its capacity to analyse complex data, support clinical decision-making and enable more personalised care. In haemophilia, AI is emerging as a potential driver of transformation across the care continuum. This narrative review synthesises current evidence, early achievements, limitations and future opportunities related to AI in haemophilia, drawing on the evolving scientific literature, initial clinical applications and perspectives from patients, healthcare professionals and global organisations. To date, AI initiatives in haemophilia span multiple domains, including joint imaging and musculoskeletal assessment, bleeding risk prediction, inhibitor risk stratification, coagulation modelling, surgical support and patient education. Machine-learning and generative AI approaches show promise in improving diagnostic consistency, enabling more individualised treatment strategies and enhancing patient engagement through digital and conversational tools. Beyond direct clinical applications, AI is also being explored as an enabler of medical education, clinical workflow optimisation, health system planning, guideline implementation and future therapeutic innovation, including gene-based and novel haemostatic therapies. Despite this momentum, AI applications in haemophilia remain at an early stage. Data scarcity intrinsic to rare diseases, limited model interpretability, biological complexity, ethical concerns and the need for robust clinical validation currently limit widespread implementation. Overcoming these challenges will require high-quality standardised data, transparent and explainable models, appropriate regulatory frameworks, education of clinicians and patients and sustained multidisciplinary collaboration.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience. 血友病治疗中心妇女血友病携带者获得护理的评估:多国经验。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70236
Cathy Harrison, Marlene Beijlevelt, Erica Crilly, Anjalin Dsouza, Cyrus Githinji, Marcela Sisdelli, Ramsay Bj, Khalid Habaybia, Jennifer Maahs
{"title":"Evaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience.","authors":"Cathy Harrison, Marlene Beijlevelt, Erica Crilly, Anjalin Dsouza, Cyrus Githinji, Marcela Sisdelli, Ramsay Bj, Khalid Habaybia, Jennifer Maahs","doi":"10.1111/hae.70236","DOIUrl":"https://doi.org/10.1111/hae.70236","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia has historically been recognised as a disease occurring in males due to X-linked inheritance. Some haemophilia carriers (HC) with factor eight or nine levels within normal range > 40 IU/dL may not have bleeding manifestation and may never require treatment, however more than 30% of haemophilia carriers experience bleeding symptoms, including those with factor levels above 50 IU/dL. World Federation of Hemophilia (WFH) guidelines for the management of haemophilia, third edition, recommend that HC, irrespective of factor levels, should be registered with a haemophilia treatment centre (HTC) and those with reduced factor levels should be managed as their male counterparts with haemophilia.</p><p><strong>Methods: </strong>To identify the provision of access to care for HC amongst global HTCs, nurses from nine countries, across six continents, collected data in line with the WFH guidelines for the management of haemophilia and reflected on challenges to meeting these recommendations around the world.</p><p><strong>Results: </strong>In 66% of HTCs, HC with normal and reduced coagulation factor levels are registered as patients within their HTCs. Differences in access to information, investigations, monitoring and treatment were observed between the participating HTCs. While this evaluation aimed to reflect global practice, the participating haemophilia treatment centres predominantly represent high-income healthcare systems.</p><p><strong>Conclusions: </strong>HC access to care remains inconsistent globally. Many of these gaps relate to different healthcare systems and resource limitations. Despite the majority of centres being large, from high income countries, the lack of demonstrable care around their management, highlights a gap in service provision for this underserved group.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene Editing for Haemophilia-The Next Frontier. 血友病的基因编辑——下一个前沿。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70238
Mirko Pinotti, Gregory A Newby, Sundar Selvaraj, Steven W Pipe
{"title":"Gene Editing for Haemophilia-The Next Frontier.","authors":"Mirko Pinotti, Gregory A Newby, Sundar Selvaraj, Steven W Pipe","doi":"10.1111/hae.70238","DOIUrl":"https://doi.org/10.1111/hae.70238","url":null,"abstract":"<p><p>The recently approved haemophilia A and B gene therapies via adeno-associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults. Conversely, genome editing by precise gene correction or targeted transgene insertion could be translated to children and even neonates. Pioneer studies with Zinc-Finger nucleases (ZFN) driving homologous directed repair (HDR) established the proof of concept for in vivo targeted integration. The advent of the much more versatile CRISPR-Cas9 technology boosted research in the haemophilia field, and preclinical data demonstrated that targeted gene insertion of the F8/F9 coding sequence, can represent a durable therapy both in adults and neonates. Although with modest efficiency, the effect can be boosted by exploitation of the hyperactive FIX<sup>Padua</sup> and/or integration at a \"smart\" target locus of a highly expressed liver-specific gene such as Albumin (Phase 1/2 trial). Moreover, targeted insertion has been achieved at the CCR5 locus to insert the FIX<sup>Padua</sup> via HDR in B lymphocytes, and this promising ex-vivo gene therapy entered a Phase 1/2 trial. Base and prime editors have also been successfully exploited in cellular models to precisely correct gene defects but their translational potential is limited by the many diverse haemophilia-causing genetic variants that need to be addressed. As these technologies mature, rigorous long-term follow-up and safety monitoring will be essential to offer patients a definitive cure for haemophilia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevention, Identification, Management and Long-Term Complications of Intracranial Haemorrhage in Children With Haemophilia and Other Severe Bleeding Disorders-A Practical Guidance. 血友病和其他严重出血性疾病患儿颅内出血的预防、识别、处理和长期并发症——实用指南
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70239
Manuel D Carcao, Nadine G Andersson, Samantha Gouw
{"title":"Prevention, Identification, Management and Long-Term Complications of Intracranial Haemorrhage in Children With Haemophilia and Other Severe Bleeding Disorders-A Practical Guidance.","authors":"Manuel D Carcao, Nadine G Andersson, Samantha Gouw","doi":"10.1111/hae.70239","DOIUrl":"https://doi.org/10.1111/hae.70239","url":null,"abstract":"<p><strong>Introduction: </strong>Intracranial haemorrhage (ICH) is the most serious complication in infants and children with severe congenital bleeding disorders causing substantial mortality and long-term neurological morbidity. The neonatal period carries the highest risk, particularly in severe haemophilia and rare factor deficiencies. We review the epidemiology, risk factors, prevention, recognition, management, and long-term outcomes of ICH in children with congenital bleeding disorders.</p><p><strong>Methods: </strong>Current evidence from cohort studies, literature reviews, and recent clinical data addressing ICH in childhood is summarized, with attention to evolving prophylactic strategies.</p><p><strong>Results: </strong>Neonatal ICH occurs in 2%-4% of infants with haemophilia and more frequently in severe FXIII and FX deficiency. Unrecognized bleeding disorders and traumatic delivery-especially with forceps or vacuum-substantially increase risk. Immediate factor replacement prior to diagnostic imaging improves survival and reduces neurological sequelae. After the neonatal period, risk remains elevated, particularly in children <1 year not receiving prophylaxis. Early initiation of prophylaxis, historically limited by challenges with intravenous access, markedly reduces ICH incidence. Emerging non-factor therapies (FVIII mimetics and rebalancing agents) enable earlier and more effective protection. Despite advances in care, 30%-40% of survivors experience long-term neurological impairments with outcomes influenced by bleed location, cerebral shift, age at time of ICH, and treatment delays.</p><p><strong>Conclusions: </strong>ICH remains a major threat to children with severe bleeding disorders. Prevention requires early identification of at-risk pregnancies, careful delivery planning, and timely diagnosis of bleeding disorders. Advances in prophylactic therapy offer the potential to significantly reduce ICH incidence and improve long-term outcomes.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Practical Advances in the Diagnosis of Haemophilia and von Willebrand Disease Including Monitoring of Non-Factor Replacement Therapies. 血友病和血管性血友病诊断的实际进展,包括监测非因素替代疗法。
IF 3 2区 医学
Haemophilia Pub Date : 2026-04-16 DOI: 10.1111/hae.70224
Annette Bowyer, Silmara Montalvão, Yesim Dargaud
{"title":"Practical Advances in the Diagnosis of Haemophilia and von Willebrand Disease Including Monitoring of Non-Factor Replacement Therapies.","authors":"Annette Bowyer, Silmara Montalvão, Yesim Dargaud","doi":"10.1111/hae.70224","DOIUrl":"https://doi.org/10.1111/hae.70224","url":null,"abstract":"<p><p>Traditional haemophilia therapies act to replace the relevant missing clotting factor, are not interchangeable between haemophilia A and B and cannot be used in patients with high titre inhibitors. Novel non-replacement factor therapies (NFT) target other endogenous coagulation proteins or anticoagulants such as antithrombin (AT) and tissue factor pathway inhibitor (TFPI) to rebalance haemostasis. As such, pharmaceutical clinical trials of these molecules have enrolled patients with haemophilia A or B, with and without inhibitors. The requirement for monitoring the efficacy of NFTs is greatly reduced compared to replacement therapy and global assays such as thrombin generation assay (TGA) have been used extensively in clinical trials to indicate improvement to haemostasis. Comprehensive haemophilia care, including access to and laboratory monitoring of replacement and NFTs, is well established in high income countries, but there are profound global inequities in the diagnosis and treatment of haemophilia which still need to be remedied. The authors examine the challenges of haemophilia and von Willebrand diagnosis and monitoring of NFTs using conventional and global assays of haemostasis.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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