Haemophilia最新文献

{"title":"High Prevalence and Clinical Burden of Bleeding Disorder of Unknown Cause in Adolescents With Heavy Menstrual Bleeding: Application of New Definition by the International Society on Thrombosis and Haemostasis.","authors":"Ruchika Sharma, Lindsey Hartland, Kendra Malone, Urooj Wahid, Ravi Sarode, Sean G Yates, Jessica Garcia, Ayesha Zia","doi":"10.1111/hae.70422","DOIUrl":"https://doi.org/10.1111/hae.70422","url":null,"abstract":"<p><strong>Background: </strong>Bleeding disorder of unknown cause (BDUC) is increasingly recognized in patients with clinically significant bleeding despite normal haemostatic testing. The International Society on Thrombosis and Haemostasis (ISTH) recently proposed a standardized definition incorporating bleeding phenotype and validated assessment tools.</p><p><strong>Objective: </strong>To determine the prevalence and clinical impact of BDUC in adolescents with heavy menstrual bleeding (HMB) using the ISTH definition for BDUC.</p><p><strong>Results: </strong>Among 205 adolescents, 57.6% met criteria for BDUC, including 86.8% of those without an established bleeding disorder using the ISTH paediatric bleeding assessment tool threshold ≥3, most with clinically significant HMB (PBAC >100). Adolescents with BDUC demonstrated similar bleeding severity, with comparable ISTH-BAT and PBAC scores (p = 0.95 and p = 0.62, respectively) as those with diagnosed bleeding disorders. However, BDUC was associated with higher rates of anaemia (50% vs. 31%, p = 0.016) and increased emergency department utilization (47% vs. 30%, p = 0.03), while iron deficiency, hospitalizations, and transfusion requirements were similar between groups. Health-related quality of life was similarly impaired in both groups (PedsQL fatigue scores of 61.1 vs. 59.6, p = 0.65).</p><p><strong>Conclusion: </strong>BDUC is highly prevalent among adolescents with HMB and is associated with a clinical burden comparable to, and in some domains exceeding, that of established bleeding disorders. These findings support BDUC as a clinically meaningful phenotype and highlight the need for improved diagnostic precision and targeted management strategies.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147663","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}

{"title":"Understanding Contact Risks of Pediatric Physical Activity: Video Analysis to Inform Decisions for Children at Risk of Bleeding Injuries.","authors":"Lauren Backstein, Ria Patel, Mona Elmikaty, Brooklyn Westlake, Sarah Sbeiti, Leonardo R Brandão, Robert Klaassen, Allison Clouthier, Chris Joslin, Ryan Graham, Patricia E Longmuir","doi":"10.1111/hae.70412","DOIUrl":"https://doi.org/10.1111/hae.70412","url":null,"abstract":"<p><strong>Introduction: </strong>Physical activity guidelines for children with inherited or acquired bleeding disorders are largely based on expert opinion rather than objective measures of injury exposure, making evidence-based participation recommendations challenging.</p><p><strong>Aim: </strong>To evaluate physical activity injury exposure by objectively measuring physical contact characteristics during childhood physical activity using video analysis.</p><p><strong>Methods: </strong>An observational video analysis was conducted across five childhood physical activities representing varying perceived risk levels (high/moderate/low): Ball hockey, ice skating, karate, swimming and physical education. Physical contacts were identified and categorized by sex, age, contact type, intentionality, readiness, movement preceding contact, and injury outcome.</p><p><strong>Results: </strong>A total of 2976 contacts were identified in 2013.5 minutes of recorded activity. Contact frequency ranged from 0.66 contacts/minute in swimming to 5.50 contacts/minute in ice skating, despite its classification as a moderate-risk activity. Contact type varied by activity, with person-ground impacts predominating in physical education and skating and person-person contacts more common in swimming and karate. Over half of all contacts (58%) were unintentional. Only 11 of 2976 contacts (0.4%) resulted in injury.</p><p><strong>Conclusion: </strong>Objective analysis of childhood physical activity recordings provides evidence regarding contact-related injury risk and may inform participation recommendations for children at risk of bleeding. Observed contact frequencies and patterns suggest that current activity risk classifications may not accurately reflect real-world exposure during childhood physical activity. Expanding objective assessment of childhood physical activities may improve injury prevention strategies and support evidence-based guidelines for at-risk populations.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108891","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}

{"title":"Patient Perspectives in Haemophilia A: Unmet Needs of Individuals Receiving Factor and Non-Factor Treatments.","authors":"Nana Kragh, Veruska Carboni, Duygu Bozkaya, Idaira Rodriguez-Santana, Claudia Mighiu, Bethany Franks, Arnoud Plat, Randall Curtis","doi":"10.1111/hae.70406","DOIUrl":"https://doi.org/10.1111/hae.70406","url":null,"abstract":"<p><strong>Introduction: </strong>There is limited qualitative published real-world data on treatment patterns among people with severe haemophilia A (PwSHA), particularly those with unmet needs.</p><p><strong>Aim: </strong>This qualitative study aimed to explore the impact of taking prophylactic extended half-life factor VIII (EHL-FVIII) or emicizumab on psychosocial and physical experiences of PwSHA.</p><p><strong>Methods: </strong>This study included 69 adults with severe haemophilia A without inhibitors from France, Germany, Italy, Spain, UK (n = 10 per country), and US (n = 19), all receiving emicizumab (54%) or EHL FVIII (46%) for ≥1 year. Participants reporting treatment dissatisfaction or unmet needs were recruited via a patient panel and completed 30-minute online semi-structured interviews. Interviews were recorded, transcribed, and analysed using framework analysis, with codes condensed and grouped into overarching themes reflecting recurring patterns and relevance to the research question.</p><p><strong>Results: </strong>Five themes were identified from the study interviews: high disease burden, treatment/management patterns, impact of symptoms on daily activities, satisfaction with current treatment, and ideal treatment characteristics. Both subgroups reported breakthrough bleeds, pain, and joint damage, often requiring additional factor (reported by ∼90%) and other strategies to maintain mobility. While generally satisfied, 65% of emicizumab users and 78% of EHL-FVIII users expressed a need for greater protection.</p><p><strong>Conclusion: </strong>This study examined treatment patterns and unmet needs in adults with severe haemophilia A receiving emicizumab or EHL-FVIII. Persistent symptoms (bleeds, pain, and joint damage) imposed limitations on PwSHA's daily life, and both subgroups reported continued use of additional factor therapy, as well as reduced satisfaction with treatment protection and administration frequency.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038112","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}

{"title":"Impact of Gene Therapy on the Haemophilia-Free Mind: Outcomes Before and After Valoctocogene Roxaparvovec in GENEr8-1 Trial Participants.","authors":"Cedric Hermans, Milad Karimi, Charlotte Camp, Steven W Pipe, Sandra Santos, Simon Harris, Matthew Reaney, David Hinds, Patrick Fogarty, Wolfgang Miesbach, Flora Peyvandi","doi":"10.1111/hae.70418","DOIUrl":"https://doi.org/10.1111/hae.70418","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia-free mind is an aspirational concept defined as a state in which affected individuals are liberated from physical, mental, and treatment burdens of haemophilia. A conceptual framework has been proposed for the haemophilia-free mind that comprises ten dimensions.</p><p><strong>Aim: </strong>To evaluate changes in achievement towards a haemophilia-free mind in participants with haemophilia A who received valoctocogene roxaparvovec gene therapy in the GENEr8-1 trial (NCT03370913), by confirming relevant dimensions, with measures and thresholds for each.</p><p><strong>Methods: </strong>An expert panel comprising four haemophilia clinicians and one patient expert identified dimensions of the haemophilia-free mind relevant to gene therapy. Measures and thresholds were defined for each dimension and used to analyse GENEr8-1 data to determine the proportion of participants achieving these thresholds at Baseline and Week 208.</p><p><strong>Results: </strong>The expert panel confirmed 7/10 dimensions as appropriate for use in gene therapy trials and defined measurement thresholds for each dimension. Among GENEr8-1 trial participants, improvements were observed across all seven dimensions. The proportion of participants with zero treated bleeds increased from 33% (Baseline) to 54% (Week 208). Similarly, those reporting no exogenous factor VIII use rose from 0% to 33%. Improvements in perceived burden on family members, physical activity, and travel were 8%, 16%, and 18%, respectively.</p><p><strong>Conclusion: </strong>This expert-led analysis demonstrates application of the haemophilia-free mind framework to clinical trial data using existing outcome measures. Mapping GENEr8-1 data to this framework demonstrated improvements of up to 33% in domains that contribute towards a haemophilia-free mind in participants after valoctocogene roxaparvovec treatment.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038098","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}

{"title":"First Report of Left Atrial Appendage Closure in a Patient With Glanzmann Thrombasthenia.","authors":"Mathieu Fiore, Xavier Iriart","doi":"10.1111/hae.70416","DOIUrl":"https://doi.org/10.1111/hae.70416","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038126","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}

{"title":"Artificial Intelligence and Machine Learning in the Context of Hemophilia: A Scope Review.","authors":"Tatyane Oliveira Rebouças, André Cardoso Tavares, Antônio Diego Costa, Cícera Jamille Caldas Rodrigues, Lucilane Maria Sales da Silva","doi":"10.1111/hae.70405","DOIUrl":"https://doi.org/10.1111/hae.70405","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in hemophilia treatment have improved life expectancy, yet challenges remain in disease management, predicting clinical complications, and optimizing healthcare resources. Artificial intelligence (AI) and machine learning (ML) have emerged as promising tools to support clinical decision-making and personalized care.</p><p><strong>Objectives: </strong>To map the available evidence on AI and ML applications in hemophilia and summarize their contributions to clinical practice.</p><p><strong>Methods: </strong>A scoping review was conducted following the Joanna Briggs Institute methodology and reported according to PRISMA-ScR guidelines. Electronic databases were searched for studies published between January 2014 and December 2024. Two independent reviewers selected studies using predefined eligibility criteria.</p><p><strong>Results: </strong>A total of 904 records were identified, with 98 duplicates removed. After title and abstract screening, 17 studies underwent full-text assessment. Eight were unavailable in full text, and five did not meet the criteria, resulting in four included studies. AI/ML applications included identification of hemophilia A cases in administrative databases, ultrasound-assisted diagnosis of hemarthrosis and synovitis, prediction of disease severity based on F8 gene mutations, and prediction of adverse clinical outcomes. Frequently used algorithms were Random Forest, support vector machines (SVM), logistic regression, convolutional neural networks, XGBoost, and CatBoost.</p><p><strong>Conclusion: </strong>Diagnostic models showed high predictive performance, whereas models for adverse outcomes demonstrated limited generalizability due to small and heterogeneous datasets. AI/ML have substantial potential to improve diagnosis, risk stratification, and personalized management in hemophilia. However, methodological heterogeneity, limited external validation, and the scarcity of studies, particularly in low- and middle-income countries, remain important barriers to routine clinical implementation.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012279","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}

{"title":"A Common Language for the Multidisciplinary Team: Point-of-Care Musculoskeletal Ultrasound in Modern Haemophilia Care.","authors":"Hortensia De la Corte-Rodriguez, María Teresa Álvarez-Román, Mauro Davoli, Magnus Aspdahl, Christina Burgess, Karin Fijinvandraat, Roberta Gualtierotti, Cedric Hermans, Marko Marinić, Carlo Martinoli, Wolfgang Miesbach, Gianluigi Pasta, Michael Sigl-Kraetzig, David Stephensen, Malin Svennefalk, Víctor Jiménez-Yuste","doi":"10.1111/hae.70411","DOIUrl":"https://doi.org/10.1111/hae.70411","url":null,"abstract":"<p><p>The evolving haemophilia care landscape has evolved with personalised prophylaxis, new coagulation factor molecules, non-replacement therapies, and gene therapy, leading to significantly reduced bleeding frequency and haemophilic arthropathy burden. With improved treatment outcomes, clinical priorities have shifted from bleed prevention to long-term joint preservation and enhanced quality of life for people with haemophilia (PwH). Subclinical joint changes often go undetected without sensitive tools. To this end, point-of-care musculoskeletal ultrasound (POC MCK-US) has emerged as a crucial way for early detection of joint abnormalities offering fast, non-invasive, and repeatable assessments.  When embedded within a structured multidisciplinary team, POC MSK-US facilitates real-time, personalised decision-making and enhances cross-disciplinary communication. In addition, it provides valuable information to patients and caregivers about their joint health and prophylaxis success, improving patient adherence and self-efficacy. Broader adoption of POC MSK-US remains limited due to access to training, equipment, and standardised assessment frameworks. Promoting its implementation through interprofessional education, standardisation, and institutional support-particularly via societies like the European Association for Haemophilia and Allied Disorders (EAHAD)-will be key to expanding equitable access, improving patient outcomes, and ensuring comprehensive, proactive haemophilia management.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012177","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}

{"title":"Biphasic Transaminitis During Corticosteroid Tapering After Etranacogene Dezaparvovec Gene Therapy for Haemophilia B: Management Lessons From the First Spanish Case.","authors":"Manuel Rodriguez Lopez, María Teresa Alvarez Román, Michael Calviño Suarez, Ramiro José Nuñez Vázquez, Carmen Albo Lopez","doi":"10.1111/hae.70417","DOIUrl":"https://doi.org/10.1111/hae.70417","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008313","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}

{"title":"Underrecognized Iron Deficiency in Pregnant Women With Inherited Bleeding Disorders.","authors":"Gretchen York, Sydney Taylor, Ming Y Lim","doi":"10.1111/hae.70408","DOIUrl":"https://doi.org/10.1111/hae.70408","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008346","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}

{"title":"Gaps Between Prescription and Practice: Pharmacy-Based Measurement of Prophylaxis Adherence in Haemophilia.","authors":"Debora M C Rocha-Santiago, Jéssica O Frade-Guanaes, Gabriela G Yamaguti-Hayakawa, Margareth C Ozelo, Alessandra N L Prezotti, Genival A Dos Santos Junior","doi":"10.1111/hae.70407","DOIUrl":"https://doi.org/10.1111/hae.70407","url":null,"abstract":"<p><strong>Introduction: </strong>Adherence to prophylactic replacement therapy is critical to prevent bleeding and joint damage in haemophilia. Although Brazil provides universal and free access to clotting factor concentrates (CFC) through the public health system, real-world adherence remains insufficiently explored.</p><p><strong>Aim: </strong>To assess adherence to prophylaxis and its association with bleeding outcomes in people with haemophilia A and B treated at two Haemophilia Treatment Centres (HTCs) in southeastern Brazil.</p><p><strong>Methods: </strong>In retrospective observational study, 224 people with haemophilia receiving ≥12 months of FVIII or FIX prophylaxis in 2024 were included. Adherence was evaluated using pharmacy dispensing records by comparing expected annual prescribed CFC consumption with actual dispensed units. Patients were classified as optimal (<15% non-dispensed), suboptimal (15%-25%), or non-adherent (>25%). Annualized bleeding rate (ABR) and annualized joint bleeding rate (AJBR) were analyzed according to adherence status.</p><p><strong>Results: </strong>Although the median factor dispensing rate was 73% (IQR: 47-96), this value falls below the 75% threshold, indicating a high overall prevalence of non-adherence. When patients were stratified into optimal, suboptimal, and non-adherent groups, 52% were classified as non-adherent. Non-adherence was more frequent in one centre (60.3% vs. 43.7%, p = 0.027) and among individuals aged 20-39 years (p = 0.003). Despite high objective non-adherence, median ABR and AJBR were zero across groups, although individual variability persisted, including bleeding events among adherent patients.</p><p><strong>Conclusion: </strong>Even within a universal-access health system, substantial gaps between prescribed and executed prophylaxis persist. Dispensing-based adherence assessment reveals hidden non-adherence and may support targeted multidisciplinary strategies to optimize long-term outcomes in haemophilia care.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008351","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}