Haemophilia最新文献

{"title":"Managing Haemophilic Arthropathy in People With Haemophilia in Japan: An Informal Consensus.","authors":"Kumiko Ono, Azusa Nagao, Yusuke Inagaki, Kagehiro Amano, Miwa Goto, Makoto Kaneda, Kenichiro Makino, Chiai Nagae, Akihiro Sawada, Rie Shirayama, Nobuaki Suzuki, Masahiro Takeyama, Naoya Yamasaki, Hideyuki Takedani","doi":"10.1111/hae.70102","DOIUrl":"https://doi.org/10.1111/hae.70102","url":null,"abstract":"<p><strong>Introduction: </strong>People with haemophilia who develop haemophilic arthropathy experience disabling physical effects, limiting functionality and quality of life (QOL). Although Clinical Practice Guidelines are available for haemophilia management, consensus on haemophilic arthropathy management is needed.</p><p><strong>Aim: </strong>To develop recommendations for haemophilic arthropathy management in people with haemophilia adapted to the Japanese medical setting.</p><p><strong>Methods: </strong>Using an informal consensus method, a steering group of 14 clinical experts (orthopaedic, rehabilitation, paediatric, and haematology) in Japan developed 40 literature-based statements and 18 sub-statements related to haemophilic arthropathy management in people with haemophilia. A panel of 30 experts was surveyed by email about their level of agreement with each statement/sub-statement. Responses were tabulated to determine the level of agreement with each statement/sub-statement: strong consensus, consensus, non-consensus, and strong non-consensus.</p><p><strong>Results: </strong>The survey was completed by 27/30 respondents. Strong consensus/consensus was reached for 39 statements/sub-statements, non-consensus/strong non-consensus was reached for four (all related to pain assessment and management), and consensus/non-consensus was not reached for 15.</p><p><strong>Conclusion: </strong>Based on insights from a wide range of clinical experts, recommendations for the management of haemophilic arthropathy in people with haemophilia in Japan were developed to aid in addressing the unique challenges faced by healthcare providers in the country. The survey findings indicate that diagnostic tools are needed to aid in haemophilic arthropathy diagnosis. Routine evaluations (physical function, joint ultrasound, QOL, and psychological), activities (physical therapy, rehabilitation, aerobic exercise, and sports), appropriate pain management, and proactive screening for osteoporosis are important when managing haemophilic arthropathy in people with haemophilia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764832","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":"Analytical Performance of an Automated Method for Measuring von Willebrand Factor Activity in Clinical Samples on the New Analyser sthemO 301.","authors":"Amélie Launois, Floriane Devaux, Célia Raulet Bussian, Laurie Goubeau, Isabelle Martin Toutain, de Raucourt Emmanuelle, Claire Flaujac","doi":"10.1111/hae.70106","DOIUrl":"https://doi.org/10.1111/hae.70106","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741980","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 UK Infected Blood Inquiry: A Personal Reflection.","authors":"Peter R Foster","doi":"10.1111/hae.70103","DOIUrl":"https://doi.org/10.1111/hae.70103","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741986","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":"Management of Pregnancy, Delivery, and Postpartum in Italian Carriers and Women With Haemophilia A and B.","authors":"Silvia Linari, Berardino Pollio, Antonietta Ferretti, Mariasanta Napolitano, Elvira Grandone, Simona Siboni, Anna Brigida Aru, Elisa Bertoni, Chiara Biasoli, Isabella Cantori, Patrizia Di Gregorio, Giuseppe Lassandro, Gianluca Sottilotta, Alessandra Strangio, Maria Rosaria Villa, Giancarlo Castaman, Angiola Rocino","doi":"10.1111/hae.70097","DOIUrl":"https://doi.org/10.1111/hae.70097","url":null,"abstract":"<p><strong>Introduction: </strong>Managing pregnancy in carriers/women with haemophilia involves four key objectives: preconception and prenatal care, minimizing maternal bleeding, choosing the delivery mode to reduce foetal/neonatal bleeding, and postpartum care. The optimal factor VIII/IX level at delivery and the best delivery method to mitigate maternal and foetal complications are still debated.</p><p><strong>Aim: </strong>To share real-world clinical management in Italian haemophilia treatment centres.</p><p><strong>Methods: </strong>In March-April 2023, members of the Italian Association of Hemophilia Centers \"AICE\" were invited to an online survey to collect information on the management of pregnancy, delivery, and postpartum in carriers/women with haemophilia.</p><p><strong>Results: </strong>Thirty-three centres responded. Plasma FVIII/FIX levels are systematically evaluated in the third trimester, considering a threshold above 50 U/dL essential for safe delivery and neuraxial analgesia. Overall, the haematologic counselling on delivery mode generally aligns with obstetric indications in 73% of centres. In women who will give birth to a known affected male foetus, 55% rely on obstetric indication, while 24% suggest spontaneous delivery and 21% planned caesarean section. Excluding those which follow obstetric indication, natural delivery and planned caesarean section are recommended respectively by 40% and 60% when prenatal diagnosis is available or by 20% and 80% when not available. All centres agree to avoid instrumental delivery in affected male foetus or when prenatal diagnosis has not been made.</p><p><strong>Conclusion: </strong>Multidisciplinary pregnancy management is recommended. Delivery mode choice is primarily driven by ensuring the newborn's maximum protection. However, the use of caesarean section should also be weighted according to the mother's risk profile.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741983","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":"Spinal Stenosis: An Emerging Complication of Ageing in People With Haemophilia.","authors":"Claire Kelly, Mark McGowan, Niamh Larkin, Jake M Mc Donnell, Anne-Marije Hilshof, Mary Byrne, Catherine Bergin, Aine O'Gara, Kevin Ryan, Mairead O'Donovan, Niamh O'Connell, Keith Synnott, Joseph S Butler, Stacey Darwish, Brian O'Mahony, Megan Kennedy, Peter L Turecek, James S O'Donnell, John Gormley, Michelle Lavin","doi":"10.1111/hae.70089","DOIUrl":"https://doi.org/10.1111/hae.70089","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in haemophilia care have brought the challenges of ageing for people with haemophilia (PWH) to the forefront. Age-related spinal degeneration may result in spinal stenosis; however, the rates in PWH are unknown. We sought to systematically review Irish PWH to address this gap in the current literature.</p><p><strong>Methods: </strong>Clinical and radiological notes of all patients ≥40 years old (yo) registered with severe or moderate haemophilia A or B were reviewed, recording Haemophilia Joint Health Scores (HJHS), radiological imaging and orthopaedic/pain interventions.</p><p><strong>Results: </strong>Of 100 males included with moderate or severe haemophilia, 13% had radiologically confirmed symptomatic spinal stenosis (reported rates 4% in the general population aged >60 yo). Persons with stenosis were older (median age 69yo vs. 55 yo, p = 0.004) with similar rates observed between those with moderate and severe haemophilia (4/35, 11.4% vs. 9/65, 13.8%). HJHS did not differ between those with and without stenosis (median 30 vs. 35, p = 0.6). On regression analysis, only age >60 yo was associated with an increased likelihood of spinal stenosis; severity of haemophilia (moderate vs. severe) was not significantly associated.</p><p><strong>Conclusions: </strong>These data identify symptomatic spinal stenosis as a novel complication of ageing for PWH. Spinal stenosis rates were higher than expected for age in comparison to reported rates in the general population. Current joint assessments fail to capture spinal pathology, highlighting limitations of HJHS in older PWH. Increased awareness amongst PWH and health care providers of spinal stenosis is directly required; however, optimal management strategies for PWH with established stenosis are yet to be defined.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741985","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":"Scientific Review of the UK Infected Blood Inquiry Report: A Personal Reflection.","authors":"Peter A Feldman","doi":"10.1111/hae.70100","DOIUrl":"https://doi.org/10.1111/hae.70100","url":null,"abstract":"<p><strong>Introduction: </strong>The UK Infected Blood Inquiry considered events related to the transmission of pathogens via infected blood, plasma and plasma-derived products. The report included conclusions about whether the scientific knowledge and technology could have prevented some of these infections.</p><p><strong>Aim: </strong>This review offers a personal reflection from the perspective of plasma fractionation science.</p><p><strong>Methods: </strong>The review is based on personal experience of developing virus-inactivated products in the 1980s.</p><p><strong>Results: </strong>It finds that although the Inquiry achieved primary purposes of recording the experiences of victims and their families and recommending that compensation be paid, it misinterpreted some of the scientific evidence. An explanation of this misunderstanding is described in terms of following aspects: the uncertain state of scientific knowledge at the time; the impracticality of using cryoprecipitate as a substitute for coagulation factor concentrates; plasma pool size; the improbability of developing virus-inactivated coagulation factor concentrates earlier; and risk-benefit assessment challenge faced by haemophilia healthcare providers at the time.</p><p><strong>Conclusion: </strong>This review offers a balance to the Inquiry's opinions about professional capabilities, which could otherwise undermine public confidence in science, discredit scientists and physicians who can no longer defend their reputations and inhibit future medical advances.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741984","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":"Cross-Sectional Survey of Haemophilia Treatment Centres (HTCs) in India: Towards a Context‑Sensitive Stratification Model.","authors":"M Joseph John, Chandrakala Shanmukhaiah, Toshirenla Aier, Neeraj Sidharthan, Renu Saxena, Shashikant Apte, Aby Abraham, Naresh Gupta, Soniya Nityanand, Cecil Ross, Tulika Seth, Alok Srivastava","doi":"10.1111/hae.70095","DOIUrl":"https://doi.org/10.1111/hae.70095","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia treatment centres (HTCs) coordinate multidisciplinary care, yet the European HTC standards on which global accreditation systems really do not reflect the wide resource gradient found in India.</p><p><strong>Aim: </strong>To assess HTC capacities across India and explore a tiered stratification model suited to diverse settings.</p><p><strong>Methods: </strong>A nationwide, self‑administered survey (February 2021-April 2022) was e‑mailed to all 291 HTCs registered with the Indian Association of Haemophilia and Allied Disorders. It captured infrastructure, laboratory capability and clinical services. Descriptive statistics and Spearman correlation were applied.</p><p><strong>Results: </strong>Ninety centres (30%) responded from 24 states/UTs. Only 34% fulfilled European HTC (EHTC) criteria and 11% met comprehensive‑care (EHCCC) criteria; 55% were unclassified despite providing haemophilia care. Laboratory‑to‑clinical functionality showed a moderate correlation (r  =  0.61, p < 0.001). Twenty‑seven percent of centres operated without an onsite coagulation laboratory, whereas 40% lacked full‑time nurses and 60% lacked multidisciplinary teams. Factor VIII/IX supplies were uninterrupted at 31% of sites; 38% offered prophylaxis to at least one patient.</p><p><strong>Conclusion: </strong>Rigid European categories mask the stepwise growth of Indian HTCs. A four‑tier model-anchored in predefined criteria for clinical and laboratory services could guide incremental upgrading while preserving patient safety.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741981","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":"Expanding the Psychosocial Framework for Gene Therapy in Haemophilia: A Psychiatric Perspective.","authors":"Ying-His Huang, Lien-Chung Wei","doi":"10.1111/hae.70098","DOIUrl":"https://doi.org/10.1111/hae.70098","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741982","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":"Radiological Stage of Hemophilic Arthropathy of Knee Does Not Correlate With Clinical Variables.","authors":"Arman Vahabi, Erdem Er, Abdussamet Kuyucu, Elcil Kaya Biçer, Semih Aydoğdu","doi":"10.1111/hae.70088","DOIUrl":"https://doi.org/10.1111/hae.70088","url":null,"abstract":"<p><strong>Background: </strong>Various functional and radiological systems have been developed to evaluate joint health and the severity of arthropathy in hemophilic patients. Clinical relevance of these radiological systems has received minimal attention.</p><p><strong>Methods: </strong>Through a retrospective chart review, 84 patients with end-stage hemophilic arthropathy of the knee were included. Pettersson and Arnold-Hilgartner scores were assessed by two observers. Correlation between radiological stage and range of motion (ROM), KSS function subscores, KSS pain subscores, total KSS, and surgical time were analyzed.</p><p><strong>Results: </strong>Interobserver correlation was found to be very strong for Pettersson score, with a value of 0.84 (95% CI: 0.75-0.89) and moderate for the Arnold-Hilgartner with kappa value of 0.4 (95% CI: 0.17-0.62). Correlation between Pettersson score and clinical variables revealed a very weak inverse correlation with ROM (r = -0.12, 95% CI: -0.33 to 0.10), KSS pain (r = -0.09, 95% CI: -0.31 to 0.12), and KSS function (r = -0.16, 95% CI: -0.36 to 0.06), and weak inverse correlation with KSS (r = -0.24, 95% CI: -0.44 to 0.2). Regarding the correlation between Arnold-Hilgartner score, a weak inverse correlation was observed with ROM (r = -0.21, 95% CI: -0.41 to 0.00), and very weak inverse correlations with KSS pain (r = -0.06, 95% CI: -0.16 to 0.27), KSS function (r = -0.00, 95% CI: -0.22 to 0.21), and KSS (r = -0.04, 95% CI: -0.25 to 0.18).</p><p><strong>Conclusion: </strong>Radiologic staging systems demonstrate weak correlation with clinically meaningful variables in patients with end-stage hemophilic arthropathy of knee, an important consideration in the management of hemophilic arthropathy.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698393","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":"Enhancing Engagement to Support Shared Decision Making Within Haemophilia: Development of Materials for People With Haemophilia, Caregivers and Healthcare Professionals.","authors":"Laura Meade, Haowei Linda Sun, Robert J Klaassen, Roxana Bahar, Shade Olatunde, Michelle Santos, Sheri vanGunst","doi":"10.1111/hae.70062","DOIUrl":"https://doi.org/10.1111/hae.70062","url":null,"abstract":"<p><strong>Introduction: </strong>Treatment decision making can be complex and challenging for people with haemophilia (PwH) and their caregivers. A shared decision-making (SDM) approach can ensure that decisions about treatment and care incorporate patients' beliefs, values, and preferences.</p><p><strong>Aims: </strong>The aims were to: (1) identify potential drivers and barriers to SDM between PwH/caregivers and clinicians, (2) develop tools to facilitate SDM in clinic appointments, and (3) gain feedback on the usability and design of these tools to inform refinements.</p><p><strong>Methods: </strong>Virtual focus groups were conducted with adolescent and adult PwH, caregivers of children with haemophilia, and physicians and allied health professionals (AHPs) across Canada to inform the development of tools to support SDM in clinical appointments. The usability and acceptability of the tools were examined in one-to-one interviews. These findings were used to further refine the tools.</p><p><strong>Results: </strong>Thematic analysis from five focus groups (n = 23) identified broad themes pertaining to barriers of SDM, factors influencing treatment decisions, and strategies to facilitate SDM. Insights were used to develop an Appointment Planner including pre-appointment questions and priority setting for PwH/caregivers and a Conversational Prompt Guide including considerations for clinicians. The findings of one-to-one interviews (n = 25) indicated good usability and acceptability and informed minor refinements to the tools.</p><p><strong>Conclusion: </strong>The study demonstrates the acceptability of specific tools to facilitate SDM based on qualitative research with the target populations. Initial feedback was positive. Further research is required to assess whether the tools can facilitate SDM by improving communication and strengthening relationships between PwH/caregivers and clinicians.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690039","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}