Haemophilia最新文献

{"title":"The Haemophilia Health Journey: Experiences and Unmet Care Needs of Caregivers and Their Young Children.","authors":"Caroline M A Mussert, Eva K Kempers, Evelien S van Hoorn, Ekin Kerimoğlu, Marijke Melles, Mathieu A Gielen, Armaĝan Albayrak, Kees T B Ahaus, Simone H Reitsma, Samantha C Gouw, Marjon H Cnossen","doi":"10.1111/hae.70383","DOIUrl":"10.1111/hae.70383","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Aim: </strong>Gain an in-depth understanding of the experiences and needs of caregivers of young children (0-10 years) with haemophilia regarding haemophilia care and daily life, as well as children's own perspectives.</p><p><strong>Methods: </strong>A qualitative interview study was conducted applying purposive sampling to select a varied sample regarding haemophilia type, disease severity, treatment modality and the child's age. Interviews were conducted until saturation was reached, followed by a comprehensive thematic content analysis including multiple phases of coding.</p><p><strong>Results: </strong>In total, 27 interviews were conducted (38 caregivers, 15 children). Twenty-five subthemes emerged related to four care pathway phases, and daily life. Caregivers emphasized that haemophilia knowledge among healthcare providers outside treatment centres, information provision, access to peer support and remote healthcare can be improved. Haemophilia had psychological, social and occupational impacts on caregivers. Impact on daily life was variable and primarily influenced by bleeding phenotype, and family history. Lastly, caregivers highlighted the importance of child-centred care, maintaining haemophilia awareness and the benefits of prophylaxis and self-administration.</p><p><strong>Conclusion: </strong>To further enhance patient-centred care, caregivers expressed the need for a tailored and centrally available information resource, expansion of remote healthcare services and increased haemophilia knowledge. Furthermore, healthcare providers should be more aware of the multifaceted impact of haemophilia on caregivers and the factors influencing haemophilia impact on daily life.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873747","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":"Exploratory Claims-Based Assessment of Diagnosed and Potentially Undiagnosed von Willebrand Disease in Japan.","authors":"Azusa Nagao, Fumikazu Shimamura, Kosuke Iwasaki","doi":"10.1111/hae.70352","DOIUrl":"10.1111/hae.70352","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"1301-1304"},"PeriodicalIF":3.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13551105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Burden of Prior Authorizations in Bleeding Disorder Specialty Drugs.","authors":"Lisa Littner, Jami Jones, Trudie Milner, Elinor Borgert","doi":"10.1111/hae.70381","DOIUrl":"https://doi.org/10.1111/hae.70381","url":null,"abstract":"<p><strong>Introduction: </strong>Prior authorizations (PAs) are widely used to control healthcare costs and ensure appropriate use of high-cost therapies, but they often create undue administrative burdens. In haemophilia care, timely access to specialty medications is critical, yet Haemophilia Treatment Centres (HTCs) must frequently navigate payer-driven PA requirements that can delay treatment and disrupt care delivery. To our knowledge, this study is the first of its kind to examine how the PA process affects patient care and provider workloads in HTCs METHODS: Twenty staff from federally designated HTCs across the United States were purposively recruited to participate in virtual, semi-structured interviews. Eligible participants were directly involved in the PA process. Interviews were recorded, transcribed, and de-identified. Data were analyzed using conventional content analysis with independent coding by two investigators, supported by Dedoose software. Descriptive statistics summarized participant characteristics, and the labour-time and cost estimate was estimated by annualizing labour costs using mean weekly hours spent on PAs and position-specific wage rates.</p><p><strong>Results: </strong>A thematic analysis revealed four themes related to PA challenges and the burden on care delivery. The mean weekly time spent on PAs was 6.5 h per participant. Eighty-five percent of participants reported burnout related to PAs. The labour-time and cost estimate per participant-year spent on PAs ranged from $4795 (nurse practitioner) to $20,718 (non-clinical staff).</p><p><strong>Conclusion: </strong>The findings emphasize the need for efficient, clinically informed PA processes to reduce administrative burden and care delays, and identify a need for further education for insurers, potentially at the national level.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864539","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":"Perioperative von Willebrand Factor and Factor VIII Kinetics in von Willebrand Disease Patients Treated With Different Clotting Factor Concentrates.","authors":"Zoë A Gras, Geoffrey Z L Kuppens, Roger E G Schutgens","doi":"10.1111/hae.70386","DOIUrl":"https://doi.org/10.1111/hae.70386","url":null,"abstract":"<p><strong>Introduction: </strong>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-ratio product (LRP, 1:1). These differences may affect FVIII kinetics.</p><p><strong>Methods: </strong>This single-centre observational study included VWD patients undergoing surgery, treated with an HRP, IRP, or LRP, and with ≥2 perioperative VWF or FVIII measurements between 2009 and 2024. VWF and FVIII trajectories were assessed using linear mixed-effects models. Secondary endpoints were bleeding and venous thromboembolic events (VTE).</p><p><strong>Results: </strong>In total, 123 patients were included; 63% underwent major surgery. Twenty-four patients received HRP, 61 received IRP and 38 received LRP. The median number of infusions was three across groups. Incremental VWF recoveries were 1.7 IU/dL per IU/kg for HRP, 1.3 for IRP, and 2.4 for LRP. FVIII recoveries were 2.5 for IRP and 2.7 for LRP. Over time, HRP showed higher mean VWF levels than IRP (Δ26 IU/dL; p = 0.010). HRP was associated with higher FVIII levels compared with IRP (Δ48 IU/dL; p < 0.001) and LRP (Δ35 IU/dL; p = 0.021). No difference was found between IRP and LRP. In patients receiving three consecutive infusions in 24 h, FVIII levels remained higher with HRP than IRP (Δ38 IU/dL; p = 0.019). No VTEs occurred.</p><p><strong>Conclusion: </strong>IRP and LRP led to greater initial VWF and FVIII peaks, whilst HRP produced more sustained FVIII elevation. Recognising these kinetic differences may guide tailored perioperative management of patients with VWD.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864553","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":"Optimizing the Genetic Workflow for Haemophilia in Resource-Constrained Settings: Integrative Genomic Viewer-Aided Identification of Large Deletions of F8 and F9 Genes.","authors":"Manu Jamwal, Debadrita Ray, Pavneet Kaur, Ritika Sharma, Hari Kishan Senee, Chander Hans, Deepak Bansal, Srinivasan Peyam, Arihant Jain, Narender Kumar, Reena Das, Jasmina Ahluwalia","doi":"10.1111/hae.70378","DOIUrl":"https://doi.org/10.1111/hae.70378","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864555","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":"Current Status of National Haemophilia Registries in the Asia-Pacific Region: An AHAD-AP Registry Committee Survey.","authors":"Azusa Nagao, Huyen Tran, M Joseph John, Jameela Sathar, Novie Chozie, Jung Woo Han, Veena Selvaratnam, Mai Thi Nguyen, Chean Sophâl, Kumiko Ono, Te-Fu Weng, Darintr Sosothikul, Alok Srivastava","doi":"10.1111/hae.70395","DOIUrl":"https://doi.org/10.1111/hae.70395","url":null,"abstract":"<p><strong>Introduction: </strong>National registries are essential infrastructure for haemophilia and allied bleeding disorders, but registry development and international alignment across the Asia-Pacific region remain unclear.</p><p><strong>Aim: </strong>To evaluate the availability, governance, technical infrastructure, international engagement, and patient-facing digital functions of national haemophilia registries across the Asia-Pacific region.</p><p><strong>Methods: </strong>The AHAD-AP Registry Committee conducted a structured survey of Country/Region/Territory (CRT) representatives. The questionnaire assessed registry status, funding and governance, international alignment, technical infrastructure, data-entry methods, and digital functions. Multiple responses from the same CRT were harmonized when needed.</p><p><strong>Results: </strong>Nineteen individual responses representing 15 CRTs were consolidated into 15 CRT-level responses. Ten CRTs reported an active national registry, one a planned registry, three no national registry, of which two had centres participating in World Bleeding Disorders Registry (WBDR), and one hospital-based registry. Haemophilia was included in all, while VWD and other inherited coagulation factor deficiencies were included in 11 of 12. Mandatory registration was reported by 5 CRTs. Funding and governance structures varied across CRTs. Awareness of WBDR was reported by 12 of 15 CRTs, while dataset alignment, data submission, and technical integration were reported by 8, 4, and 1 CRTs, respectively. Manual data entry remained common (9/12), and patient-oriented digital functions, including infusion logs or related support tools, were reported by 10 of 12 registries.</p><p><strong>Conclusion: </strong>This survey represents the first large regional assessments of national haemophilia registry infrastructure across the Asia-Pacific region. Harmonized datasets, sustainable governance, technical integration, and patient-facing digital tools may support future registry development.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864175","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":"Safety of Damoctocog Alfa Pegol in Patients With Severe Haemophilia A Aged 7 to <12 Years of Age: Pooled Data From PROTECT VIII Kids and Alfa-PROTECT.","authors":"Margareth C Ozelo, Anthony K C Chan, Matteo Luciani, Monika Maas Enriquez, Claudia Tueckmantel, Maria Elisa Mancuso","doi":"10.1111/hae.70387","DOIUrl":"https://doi.org/10.1111/hae.70387","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864534","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":"Bridging the Gap: A Systematic Review of Modern Hemophilia Therapies and Global Inequities in Clinical Trial Participation.","authors":"Nadiya Nurul Afifah, Lanny Indah Permatasari, Irma Rahayu Latarissa, Indra Wijaya","doi":"10.1111/hae.70397","DOIUrl":"https://doi.org/10.1111/hae.70397","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Hemophilia management has evolved from conventional factor replacement to non-factor therapies and gene therapy. However, most clinical trials of modern therapies are conducted in high- and upper-middle-income countries, with limited participation from low- and middle-income regions. This disparity reflects broader inequities in access to advanced treatments. This study summarizes the clinical development timeline, regulatory status, methodological approaches, and global distribution of clinical trials on modern hemophilia therapies.</p><p><strong>Methods: </strong>A PRISMA-guided systematic review was conducted using PubMed and EBSCO databases. Clinical trials evaluating gene and non-factor therapies were identified through structured keyword searches. Titles, abstracts, and full texts were screened using predefined criteria. Data were synthesized to describe clinical progress, approval status, and geographic participation. Manual reference screening and citation tracking were also performed.</p><p><strong>Results: </strong>Identified agents included gene therapies (valoctocogene roxaparvovec, etranacogene dezaparvovec; late-stage fidanacogene elaparvovec), siRNA therapy (fitusiran), anti-TFPI antibodies (concizumab, marstacimab), and the FVIII-mimetic antibody emicizumab. Gene therapy is dominated by AAV platforms, offering durable expression but limited by immunogenicity, re-dosing constraints, and high costs. SiRNA and anti-TFPI therapies enhance thrombin generation but require careful dosing to mitigate thrombotic risk. Emicizumab provides convenient subcutaneous prophylaxis but remains costly with limited data in pediatric and resource-limited settings. Most trials were conducted in high-income countries, with minimal LMIC representation.</p><p><strong>Conclusion: </strong>Modern therapies demonstrate strong efficacy and acceptable safety, with several approved agents. However, persistent global inequities in trial participation and access highlight the need for more inclusive research and equitable implementation strategies.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864107","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":"Democratising Haemophilia Knowledge With AI: Are We Ready for Digital Education?","authors":"Carlos Cruz-Montecinos, Daniela Cortez-Salazar, Joaquín Calatayud, Rodrigo Núñez-Cortés","doi":"10.1111/hae.70380","DOIUrl":"https://doi.org/10.1111/hae.70380","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864430","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":"Healthcare Professional Identified Priorities for a New Musculoskeletal Examination Scoring System for People With Hemophilia-an International Consensus.","authors":"Lizabeth Teshler, Audrey Abad, Magnus Aspdahl, Laura Avila, Melanie Bladen, Sharon Funk, Pamela Hilliard, Judy Ann John, Marilyn Manco-Johnson, Janjaap van der Net, David Stephensen, Jean St-Louis, Merel Timmer, Beth Boulden Warren, F Virginia Wright, Nichan Zourikian, Brian M Feldman","doi":"10.1111/hae.70368","DOIUrl":"https://doi.org/10.1111/hae.70368","url":null,"abstract":"<p><strong>Introduction: </strong>The accurate physical examination of musculoskeletal (MSK) health is an essential part of proactive best practice care of people with hemophilia and must be consistently monitored in clinic. In response to current MSK tool limitations, the Musculoskeletal Health Expert Working Group (MSKH EWG) of the International Prophylaxis Study Group (IPSG) has identified developing an improved MSK scoring system a priority.</p><p><strong>Aim: </strong>To identify the priority needs for healthcare professionals examining the MSK health of people with hemophilia in clinic.</p><p><strong>Methods: </strong>Priorities were identified through a modified Delphi consensus process and an expert meeting with the members of the MSKH EWG. Three iterative surveys were distributed worldwide to healthcare professionals who were participants of the World Federation of Haemophilia (WFH) MSK Committee meetings.</p><p><strong>Results: </strong>The modified Delphi process identified priorities of these healthcare professionals (n = 78) through surveys and an expert meeting (n = 13). The three surveys achieved response rates of 58%, 54% and 55%. The top two priorities, as to why a new MSK scoring system should be developed, were 1) current tools cannot detect the earliest and subtle changes of hemophilia, and 2) current tools are too time consuming. The top two attributes and purposes of a new MSK scoring system were to 1) measure the earliest changes of hemophilia, and 2) measure joint health changes over the course of time.</p><p><strong>Conclusion: </strong>The Delphi process successfully identified which future MSK examination priorities should be considered in the development of an improved MSK scoring system for clinical use.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840128","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}