Haemophilia最新文献

{"title":"Comprehensive Assessment of the Transition to Efanesoctocog Alfa Prophylaxis in a Paediatric Haemophilia A Cohort","authors":"Rubén Berrueco,&nbsp;Nuria Caballero,&nbsp;Cristina Benedicto,&nbsp;Cristina González-Anleo,&nbsp;Evelin Casanova,&nbsp;Edurne Sarrate,&nbsp;Pablo Estival,&nbsp;Natalia Rodríguez-Nieva","doi":"10.1111/hae.70328","DOIUrl":"10.1111/hae.70328","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Efanesoctocog alfa is a novel recombinant factor VIII (FVIII) with an ultra-extended half-life and stable pharmacokinetics, approved for prophylaxis in children with haemophilia A (HA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To describe the experience of transitioning paediatric patients with HA to efanesoctocog alfa using a comprehensive assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Prospective observational study in a paediatric haemophilia unit. Patients &lt;18 years without inhibitors were transitioned from prior prophylaxis to efanesoctocog alfa. Treatment regimen, adherence, annual bleeding rate (ABR), pharmacokinetics, joint health, sports, quality-of-life, treatment burden, treatment satisfaction/preference were compared at baseline and during follow-up between efanesoctocog alfa and previous treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eighteen patients (mean age 9.42 years) were included. After 365 ± 84.08 days, adherence improved and no inhibitors were detected. A significant increase in half-life was observed (from 13.57 ± 3.6 to 57.13 ± 6.1 h) which led to a lower ABR score in the series (0.39–0.05) and an improvement of joint health after 6 months (<i>n</i> = 15 patients), due to a relevant synovitis reduction (20% reduction in elbows; 13.3% in ankles) despite patients were moderately-highly physically active. Quality-of-life perception improved after 3 months (EQ-VAS increased: 90.72 ± 10.31 to 95.25 ± 5.3; <i>p</i> = 0.03) as well as treatment burden (HEMO-TEM global score in 12–18 year-old patients: 16.08 ± 11.43 to 11.72 ± 14.8). Patients/caregivers expressed a strong preference for efanesoctocog alfa.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Transitioning to efanesoctocog alfa was safe and effective in this paediatric cohort. Despite limited follow-up, data suggest this therapy offers meaningful clinical and psychosocial benefits.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"32 5","pages":"1170-1178"},"PeriodicalIF":3.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148053981","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":"Occupational Therapy in Haemophilia Care: Perceived Role, Barriers and Expectations Among People With Haemophilia, Family Caregivers and Occupational Therapists.","authors":"Marta Elisa Seoane-Martín, Rubén Cuesta-Barriuso, María Carmen Rodríguez-Martínez","doi":"10.1111/hae.70398","DOIUrl":"https://doi.org/10.1111/hae.70398","url":null,"abstract":"<p><strong>Introduction: </strong>Evidence on the application of occupational therapy in people with haemophilia is limited, and its integration into routine care remains scarce.</p><p><strong>Objective: </strong>To explore the perceived role, barriers, and expectations related to occupational therapy in haemophilia care from the perspective of patients, caregivers, and occupational therapists.</p><p><strong>Methods: </strong>An exploratory qualitative study was conducted using six online focus groups between September 2025 and May 2026. By purposive sampling, 32 participants were included: 11 patients with haemophilia A or B of moderate or severe phenotype, 10 caregivers, and 11 occupational therapists. The sessions followed a semi-structured guide, were transcribed verbatim, and analysed using a deductive-inductive thematic approach.</p><p><strong>Results: </strong>Patients and caregivers described difficulties related to joint damage, pain, autonomy, activities of daily living, and participation, as well as spontaneously developed coping strategies. Knowledge of occupational therapy was generally limited. The three subgroups perceived it as a potentially useful resource to adapt activities and environments, prevent risks, promote self-care, and promote autonomy and participation. The main barriers were lack of information and visibility, absence of referral pathways, unequal access, scarcity of resources, and limited specific training in haemophilia.</p><p><strong>Conclusion: </strong>Occupational therapy was perceived as a possible complement to multidisciplinary haemophilia care. Greater visibility, targeted training, clear referral pathways, and studies evaluating structured interventions are required.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911722","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":"Risk of Postpartum Hemorrhage in Women With Von Willebrand Disease: A Real-World Data Analysis.","authors":"Mayank Patel, Victor Zibara, Craig Seaman, Sruti Shiva, Nicoletta C Machin","doi":"10.1111/hae.70400","DOIUrl":"https://doi.org/10.1111/hae.70400","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt;To evaluate maternal outcomes associated with claims-recorded VWD in a national claims cohort and describe exploratory treatment and geozip analyses.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We retrospectively analyzed FAIR Health claims from 2011-2021. Delivery encounters, VWD, and outcomes were identified using ICD-9/10 codes; laboratory confirmation was unavailable. Logistic regression estimated odds ratios (ORs) and 95% confidence intervals (CIs) for PPH, length of stay above the median, 30-day emergency department visit or readmission, and in-hospital mortality.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among 1,498,768 delivery encounters, 1,514 (0.10%) involved claims-recorded VWD. Overall outcome frequencies were 3.79% for PPH, 24.81% for length of stay above the median, 7.43% for 30-day utilization, and 0.036% for mortality. Claims-recorded VWD was associated with PPH (OR 1.70, 95% CI 1.38-2.10), length of stay above the median (OR 1.58, 95% CI 1.41-1.78), and 30-day utilization (OR 1.20, 95% CI 1.01-1.43), but not mortality (OR 1.79, 95% CI 0.25-12.73). In exploratory analyses, VWF concentrate claims were associated with higher PPH odds versus neither captured desmopressin nor VWF concentrate (OR 3.17, 95% CI 1.28-7.87); desmopressin showed a similar non-significant pattern (OR 3.32, 95% CI 0.93-11.82).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Claims-recorded VWD was associated with PPH and greater peripartum healthcare utilization. Exploratory treatment associations may reflect confounding by indication, diagnostic misclassification, or treatment timing and cannot establish benefit or harm. Prospective studies incorporating laboratory and clinical data are needed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language summary: &lt;/strong&gt;Von Willebrand disease is the most common inherited bleeding disorder. For many women, it can cause heavy periods and can also increase the risk of heavy bleeding after delivery, called postpartum haemorrhage. Even though this risk is well recognised, there is still limited information about what happens in real-world delivery care across the United States. In this study, we looked at a large national insurance claims database that included almost 1.5 million delivery encounters from 2011 to 2021. Of these, 1,514 were among women with von Willebrand disease. Compared with women without von Willebrand disease, women with von Willebrand disease had higher odds of postpartum haemorrhage, longer hospital stays, and emergency department visits or readmissions within 30 days of delivery. We also looked at outcomes among women with von Willebrand disease based on whether treatment was documented in the claims data. Women who had claims for von Willebrand factor concentrate or desmopressin had hi","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905958","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":"Rifampicin Chemical Synovectomy in Chronic Hemophilic Synovitis: A Case Series From Turkey.","authors":"Mehmet Can Uğur, Semih Aydoğdu, Elcil Kaya Biçer, Nihal Karadaş, Kaan Kavaklı","doi":"10.1111/hae.70401","DOIUrl":"https://doi.org/10.1111/hae.70401","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905973","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":"Global Diagnostics of Hemophilia and Bleeding Disorders: Insights From World Federation of Hemophilia International External Quality Assessment Scheme Program 2016-2023.","authors":"Silmara de Lima Montalvão, Ian Jennings, Dianne P Kitchen, Christopher Reilly-Stitt, Glenn F Pierce, Andreina Tovar, Jayson Martin, Assad Haffar, Steve Kitchen","doi":"10.1111/hae.70391","DOIUrl":"https://doi.org/10.1111/hae.70391","url":null,"abstract":"<p><strong>Introduction: </strong>Accurate laboratory diagnosis is essential for the effective management of bleeding disorders. The World Federation of Hemophilia (WFH) International External Quality Assessment Scheme (IEQAS) provides an international platform for comparative evaluation of laboratory performance.</p><p><strong>Aim: </strong>To evaluate global laboratory performance in the diagnosis and monitoring of bleeding disorders, and to assess the impact of training and capacity-building initiatives on laboratory quality.</p><p><strong>Methods: </strong>We conducted an analysis of data from 268 laboratories in 114 countries participating in the WFH IEQAS program between 2016 and 2023.</p><p><strong>Results: </strong>The proportion of countries with at least one participating laboratory was 71% in the Americas, 65% in Africa, 54% in Asia, 50% in Europe, 28% in the Middle East, and 7% in Oceania. Most laboratories were in upper-middle-income countries. Across all surveys, only 50% of factor VIII activity assay results fell within the expected target range. Oceania demonstrated the highest rate of consensus (78%, based on two laboratories), followed by Asia (58%), the Americas (53%), and Europe (53%). Longitudinal analysis revealed progress in Africa and the Middle East. Two hemophilia center laboratories monitored over seven years following training showed divergent outcomes: one sustained improvement, while the other achieved only transient gains.</p><p><strong>Conclusions: </strong>Substantial variability persists in global laboratory performance for bleeding disorder diagnostics, with marked regional disparities. Improvements in Africa and the Middle East demonstrate the positive impact of targeted training and capacity-building. The WFH IEQAS program provides a robust framework for comparative evaluation laboratory performance and guiding interventions to strengthen diagnostic capacity worldwide.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148887157","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":"Real-World Experience With Emicizumab for Haemophilia A From the Physician Perspective in a Real-World Clinical Setting.","authors":"Michael Recht, Chris Blazos, Sophie Lai, Nathan Ball, Ella Morton, Lucy Lee, Juliana M L Biondo, Janet S Lee","doi":"10.1111/hae.70394","DOIUrl":"https://doi.org/10.1111/hae.70394","url":null,"abstract":"<p><strong>Introduction: </strong>Emicizumab is a bispecific antibody approved for prophylaxis in people with haemophilia A (PwHA).</p><p><strong>Aim: </strong>To describe from the physician perspective the characteristics and treatment experiences of PwHA receiving emicizumab.</p><p><strong>Methods: </strong>The Adelphi Real World Haemophilia Disease Specific Programme is a cross-sectional, retrospective data collection from US haematology and haematology-oncology specialists between July 2023 and April 2024. Male PwHA with or without inhibitors were included if they had baseline factor VIII levels <5% and were not currently participating in a clinical trial. Surveys captured demographic characteristics and clinical outcomes, including bleeding events.</p><p><strong>Results: </strong>Fifty-four physicians provided data for 293 PwHA, of which 115 were seen outside federally funded haemophilia treatment centres (HTCs), 77 were treated with emicizumab and 49 had pre- and post-emicizumab initiation data available. More Black, African American, African or Caribbean PwHA received emicizumab outside federally funded HTCs than at federally funded HTCs (46.2% vs. 16.7%). Most emicizumab doses were taken on time (mean [SD], 90.7% [14.6%]), and 64.0% of PwHA took >80% of the prescribed dose. More PwHA had zero treated bleeds (76.9% vs. 42.9%), with fewer bleeding events (mean [SD], 1.3 [1.9] vs. 0.4 [1.1]; p = 0.0001) during the post-emicizumab period (median [IQR] follow-up, 12.0 [1.3-12.0] months) than in the 12 months pre-emicizumab. Post-emicizumab outcomes were similarly improved across settings, whether at federally funded HTCs or elsewhere.</p><p><strong>Conclusion: </strong>Among PwHA receiving emicizumab, rates and severity of bleeds decreased after emicizumab initiation, regardless of the clinical setting.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880195","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":"Physical Activity, Bleeding Incidence and Health-Related Quality of Life, in Patients With Haemophilia A Without Inhibitors, Treated With Emicizumab: A Post-Hoc Descriptive Analysis of the Power Study Data.","authors":"Matteo Nicola Dario Di Minno, Berardino Pollio, Ezio Zanon, Gaetano Giuffrida, Sara Bendinelli, Raffaella Perrone, Giancarlo Castaman","doi":"10.1111/hae.70382","DOIUrl":"https://doi.org/10.1111/hae.70382","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880249","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":"The Essential Role of Psychosocial Care in Comprehensive Haemophilia Treatment: Global Perspectives From Haemophilia Treatment Centres and National Member Organizations.","authors":"Amanda Stahl, Kathaleen Schnur, Silvina Graña","doi":"10.1111/hae.70360","DOIUrl":"https://doi.org/10.1111/hae.70360","url":null,"abstract":"<p><p>Psychosocial care is a critical component of comprehensive haemophilia management, though its availability varies across regions and between clinical and community settings. This paper examines the landscape of psychosocial services offered through Haemophilia Treatment Centres (HTCs) and National Member Organizations (NMOs), both of which promote mental health, treatment adherence, and quality of life (QoL) using different frameworks. The delivery of psychosocial care in clinical settings, including staffing models, training, and collaboration with other healthcare professionals, is described in this paper, as are the differences between high-income and low- and middle-income countries. We explore how socioeconomic factors, gender, and cultural context influence haemophilia care and consider the future of psychosocial care needs related to novel therapies such as gene therapy and extended half-life products. The paper concludes by advocating for integrated psychosocial care that adapts alongside biomedical advances, addresses global inequities, and emphasizes a patient-centred, culturally informed approach to treatment.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880253","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":"Platelet Hyperreactivity May Contribute to Thrombotic Complications in Afibrinogenemia: A Case-Based Observation.","authors":"Liqin Ling, Chaonan Liu, Qianyuan Luo, Xunbei Huang, Shuang Wang, Zhiyu Yu, Ting Liu, Wanjun Chen, Xiao Shuai, Jing Zhou","doi":"10.1111/hae.70354","DOIUrl":"10.1111/hae.70354","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"1305-1309"},"PeriodicalIF":3.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13551145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148387493","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":"Acquired von Willebrand Syndrome in Metabolic Dysfunction-Associated Steatohepatitis With Altered VWF Kinetics and a Type 2-Like Multimer Pattern.","authors":"Hiroaki Akiyama, Seiji Kakiuchi, Akimasa Sakamoto, Naru Tomigaki, Shutaro Fujioka, Isamu Harima, Ryotaro Niwa, Ikumi Takagi, Yoko Kozuki, Yoshiharu Miyata, Nobuko Iwata","doi":"10.1111/hae.70330","DOIUrl":"10.1111/hae.70330","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"1297-1300"},"PeriodicalIF":3.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13551203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143235","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}