Haemophilia最新文献

{"title":"Thirty Years of the Journal Haemophilia","authors":"Christine A. Lee","doi":"10.1111/hae.15127","DOIUrl":"10.1111/hae.15127","url":null,"abstract":"<p>It is interesting to reflect on the history of the journal <i>Haemophilia</i> on the completion of 30 years of publication.</p><p>The launch issue, <i>Haemophilia</i> (1995)1, 74–76, ‘<i>Dedicated to the exchange of information concerning the comprehensive care of haemophilia</i>’, was published by <i>Blackwell Science</i> and appeared in October 1994.</p><p>In 1939, Blackwell Scientific Publications (BSP), under the chairmanship of Mr Basil Blackwell, seized the opportunity to publish ‘medical and scientific research books’ when the generosity of William Morris, later Lord Nuffield, who owned the thriving car industry Morris Motors, endowed Nuffield professorial chairs in Medicine, Anaesthesia and Orthopaedics in the Oxford University Clinical School. The face of medicine in Oxford changed dramatically and, with it, the assumption that medical books would be written in greater numbers. However, during the following World War years, the BSP remained largely dormant.</p><p>BSP has always held a prominent position in haematology publication and, in 1955, the very first journal it launched was the <i>British Journal of Haematology</i>. Gwyn Macfarlane, a pioneer in haemophilia care in Oxford, whose book co-authored with Rosemary Biggs was also published by BSP, was an enthusiastic supporter of this new move into scientific journal publication.</p><p>My inspiration to approach BSP in the early 1990s to publish <i>Haemophilia</i> was that the continuing expansion of literature relating to the comprehensive care of haemophilia was distributed amongst a variety of specialist journals, and it was sometimes difficult for health care professionals to keep up to date.</p><p>I thought it was important, from the outset, that <i>Haemophilia</i> should become the official journal of the World Federation of Hemophilia (WFH) in order that the State-of-the-Art lectures and the abstracts from the biannual meeting of the Federation could be published. Shelby Dietrich, publications officer for WFH, was very supportive of the proposal. BSP wanted a North American co-editor and Doreen Brettler of the New England Hemophilia Centre agreed to edit with me. Whilst we attended the World AIDS meeting in Berlin in spring 1992, together, we discussed plans for the journal including a potential editorial board: we wanted this to be both multi-disciplinary and international.</p><p>In 1992, the journal <i>Haemophilia</i> was adopted as the official journal of WFH during a meeting to discuss the WFH 1990 Decade Plan in Estoril, Portugal. At my request, BSP provided a ‘mock up’ silver front cover with red lettering and using the spelling ‘haemophilia’, which was accepted.</p><p>The contents of the launch issue in October 1994 contained the report, written by Jean Lusher of the fourth joint WHO/WFH meeting held in Geneva in March 1994. The participants were physicians and scientists from seven countries, including Australia, India, Italy, Russia, Sweden, the UK and the USA and th","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1255"},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846338","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":"Pain-Related Quality of Life Outcomes in People With Haemophilia A Receiving Emicizumab: A Post Hoc Analysis of the HAVEN 1, 3 and 4 and STASEY Studies","authors":"Cedric Hermans,&nbsp;Mark W. Skinner,&nbsp;Brittany Gentile,&nbsp;Elise Lim,&nbsp;Miranda Minhas,&nbsp;Katya Moreno,&nbsp;Eunice Tzeng,&nbsp;Tyler W. Buckner","doi":"10.1111/hae.15134","DOIUrl":"10.1111/hae.15134","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>People with haemophilia A (PwHA) experience acute and chronic pain associated with reduced quality of life (QoL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>This post hoc analysis of pooled data from the HAVEN 1 (NCT02622321), 3 (NCT02847637), 4 (NCT03020160) and STASEY (NCT0319179) studies assessed the impact of emicizumab prophylaxis on pain-related QoL in PwHA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>PwHA received emicizumab during the four studies. In this analysis, pain was assessed using patient-reported responses to pain-specific questions from the Haem-A-QoL/Haemo-QoL-SF and the pain/discomfort dimension of the EQ-5D-5L. Responses were recorded at baseline and at regular intervals for up to 78 weeks following treatment initiation. Additional analyses evaluated the population with target joints at baseline, and the overall population stratified by age, factor (F)VIII inhibitor status and prior treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At the data cut-off, 504 PwHA had been treated across the four studies; 464 and 470 completed the Haem-A-QoL/Haemo-QoL-SF and the EQ-5D-5L, respectively. Improvements in pain-related QoL were observed by Week 13 of emicizumab prophylaxis and maintained through Week 78. In the overall population, responses of ‘never/rarely’ for ‘my swellings hurt’ and ‘pain in joints’ increased from 37.0% and 30.0% at baseline to 84.0% and 61.0% by Week 13, suggesting reductions in acute and chronic pain, respectively. Similar improvements were seen in the target joint population, and across all strata. Greater improvements were observed in younger versus older PwHA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Pain-related QoL improved with emicizumab prophylaxis regardless of target joints, age, FVIII inhibitor status or prior treatment. Haemophilia-specific assessments are needed to accurately capture and characterize pain in PwHA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"87-98"},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846250","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":"Repeated Radiosynovectomy in Haemophilia: Revealing Long-Term Effectiveness and Safety","authors":"Basak Koc,&nbsp;Cuneyt Turkmen,&nbsp;Gokhan Polat,&nbsp;Bulent Zulfikar","doi":"10.1111/hae.15142","DOIUrl":"10.1111/hae.15142","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Radiosynovectomy (RS), which uses beta particle-emitting radiocolloids, has proven highly effective in significantly reducing the occurrence of haemarthroses and breaking the cycle of bleeding and synovitis. This study now presents the long-term outcomes of repeated RS in individuals with haemophilia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Repeated RS was administered to 48 joints in 37 people with haemophilia (PwHs) diagnosed with chronic haemophilic synovitis. The frequency of bleeding episodes was meticulously recorded during the 6-month periods preceding and following each of the initial and subsequent RS procedures. Treatment failure was designated by the necessity for additional RS injections.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results for 48 joints were analysed. The mean bleeding frequency of the joints was 12.5 ± 7.29 (median 10) within the last 6 months in the pre-treatment evaluation and after the treatment, the mean bleeding frequency of the joints decreased to 2.25 ± 3.82 (median 0.5) for the first 6 months (<i>p</i> &lt; 0.001) after the first RS. The mean survival of the first intervention was 40.52 ± 33.79 months (range, 1–124 months). In the second RS, the mean bleeding frequency of the joints was 10.29 ± 7.66 (median 8) within the last 6 months in the pre-treatment evaluation and after the treatment, and the mean bleeding frequency of the joints decreased to 0.93 ± 1.69 (median 0) for the first 6 months (<i>p</i> &lt; 0.001). The survival rate of the second RS was 94% at 12 months, and 87% at 36 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Repeated RS was proven to be an effective and safe treatment for Pwh with recurrent bleeding episodes during long-term follow up. Thirty-six months survival rate was 87% (42 of 48 joints).</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"156-161"},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846334","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 Data on Patients With Acquired Haemophilia A in Japan Undergoing Rehabilitation or With Low Activities of Daily Living Scores: The ORIHIME II Study","authors":"Yoshiyuki Ogawa,&nbsp;Kagehiro Amano,&nbsp;Yoshimasa Sugao,&nbsp;Daisuke Nosaka,&nbsp;Yoichi Murakami,&nbsp;Hiroki Adachi,&nbsp;Keiji Nogami","doi":"10.1111/hae.15132","DOIUrl":"10.1111/hae.15132","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Acquired haemophilia A (AHA) is characterized by the development of autoantibodies against factor VIII, reducing its activity and potentially resulting in bleeding.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To assess the characteristics of people with AHA undergoing rehabilitation and/or with low activities of daily living (ADL) scores, thereby characterizing unmet needs in the management of AHA and informing treatment optimization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>ORIHIME II, the largest epidemiological and treatment survey of AHA in Japan, is a descriptive, retrospective, observational study conducted using health claims data from April 2008 to October 2021. The primary outcome measures were rehabilitation practice and ADL scores on hospital admission and discharge; use of haemostatic agents and immunosuppressive therapy were also assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 427 patients in Japan were eligible for the study. Median (Q1–Q3) age was 78.0 (70.0–84.0) years; 264 patients (61.8%) were male. Median (Q1–Q3) time to start rehabilitation was 9 (4–21) and 14 (6–31) days for those with an admission ADL score of &lt;85 and ≥85, respectively. Of the 427 patients, 249 underwent rehabilitation. The most common rehabilitation type was for disuse syndrome; haemostatic agents were more commonly used in patients undergoing earlier rehabilitation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The physical condition of the patient at hospitalization was associated with rehabilitation practice and the ability of the patient to perform day-to-day activities independently. Treatment strategies should be optimized to allow initiation of rehabilitation as early as possible in the course of AHA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"99-107"},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846271","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":"Bleed treatment with eptacog beta (rFVIIa) results in a low incidence of rebleeding in adult and adolescent patients with haemophilia A or B with inhibitors","authors":"Amy Dunn,&nbsp;Yesim Dargaud,&nbsp;Yasmina Abajas,&nbsp;Manuel Carcao,&nbsp;Giancarlo Castaman,&nbsp;Adam Giermasz,&nbsp;Cédric Hermans,&nbsp;Victor Jiménez-Yuste,&nbsp;Magdalena Lewandowska,&nbsp;Johnny Mahlangu,&nbsp;Shannon Meeks,&nbsp;Wolfgang Miesbach,&nbsp;Michael Recht,&nbsp;Vanessa Salinas,&nbsp;Tammuella Chrisentery-Singleton,&nbsp;Daniel Bonzo,&nbsp;Ian S. Mitchell,&nbsp;Thomas A. Wilkinson,&nbsp;Guy Young","doi":"10.1111/hae.15109","DOIUrl":"10.1111/hae.15109","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Eptacog beta is a novel human recombinant FVIIa approved for use in the United States, European Union, United Kingdom and Mexico for the treatment and control of bleeding in patients with haemophilia A or B with inhibitors (≥12 years). It is also indicated for perioperative care in the same patient population in Europe and the United Kingdom.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To assess the incidence of rebleeding and review treatment outcomes in subjects with haemophilia with inhibitors enrolled in the phase 3 PERSEPT 1 clinical trial.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To treat mild/moderate bleeding episodes (BEs), subjects administered an initial 75  or 225µg/kg dose of eptacog beta, followed (if necessary) by additional 75µg/kg doses at predefined intervals until bleed control. This analysis used subject-reported rebleeding to determine a rebleeding incidence for the first 24 h. Rebleeding through later timepoints was an exploratory, intention-to-treat analysis of bleed treatment data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Four hundred and sixty-five BEs were analysed. Through 24 h, the proportion of rebleeds was 0% (initial 75µg/kg dose) and 0.5% (initial 225µg/kg dose). Through 48 h, the proportion of rebleeds was 3.2% (75µg/kg initial dose) and 5.6% (225µg/kg initial dose); the difference between initial dose strategies was not statistically significant. The majority of rebleeds were controlled with a single dose of eptacog beta and no subject who treated a rebleed required hospitalization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Subjects with haemophilia with inhibitors who used eptacog beta to treat mild/moderate BEs experienced a low incidence of rebleeding. Rebleeds that did occur were effectively controlled with eptacog beta (median, one dose) without the need for hospitalization.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"78-86"},"PeriodicalIF":3.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828338","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":"Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease.","authors":"Mark W Skinner, Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L Dunn, Miguel A Escobar, Carmen Escuriola-Ettingshausen, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez-Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F Pierce, Gloria Ramos, Michael Recht, Olivia Romero-Lux, Dawn Rotellini, Rita C Santoro, Tammuella C Singleton, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A Valentino, Jerzy Windyga, Renchi Yang, Maria Elisa Mancuso","doi":"10.1111/hae.15136","DOIUrl":"https://doi.org/10.1111/hae.15136","url":null,"abstract":"<p><strong>Introduction: </strong>The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF-McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.</p><p><strong>Aim: </strong>Discuss missed opportunities and the methodological approach of the ISTH Guideline in contrast to how GRADE was previously applied in rare diseases.</p><p><strong>Methods: </strong>Critically analyse the methodology of each guideline along with best practices in the use of GRADE. Where applicable, the WFH Guidelines for the Management of Haemophilia were analysed.</p><p><strong>Results: </strong>Important differentiating features in applying GRADE were identified. Where a strong evidence base is lacking, data other than those from randomized controlled trials, which may not always be justified, need to be considered, including incorporation of outcomes important to people living with the disease. Justification and stakeholder input to prioritize questions requiring a new guideline, panel composition with necessary patient participation and content expertise were also found to be significant differentiating features.</p><p><strong>Conclusion: </strong>The puristic approach taken in the ISTH Guideline development process, without consideration of accepted adaptations to GRADE implementation, created a missed opportunity for progressing haemophilia care, leading to guideline recommendations that have been widely deemed invalid and obsolete by expert healthcare professionals and by those living with the condition, the very people who are expected to implement or bear the impact of the recommendations. Lessons learnt from this comparative analysis should guide future guideline development and encourage collaboration to further advance haemophilia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794645","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":"International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.","authors":"Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L Dunn, Miguel A Escobar, Carmen Escuriola Ettingshausen, Kathelijn Fischer, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez-Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Maria Elisa Mancuso, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F Pierce, Gloria Ramos, Michael Recht, Olivia Romero-Lux, Dawn Rotellini, Rita C Santoro, Tammuella C Singleton, Mark W Skinner, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A Valentino, Jerzy Windyga, Renchi Yang","doi":"10.1111/hae.15135","DOIUrl":"https://doi.org/10.1111/hae.15135","url":null,"abstract":"<p><strong>Introduction: </strong>Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact. In formulating guidelines, it is essential to include treatment goals and patient preference.</p><p><strong>Aim: </strong>This paper comprehensively critiques, against this background, the recommendations of the ISTH clinical practice guidelines for the treatment of haemophilia.</p><p><strong>Methods: </strong>Each recommendation was critically reviewed against available evidence as well as existing guidelines and commented upon for its scientific validity, impact on clinical practice and access to care globally. The validity of the way in which the GRADE methodology was applied to existing evidence was also assessed.</p><p><strong>Results: </strong>The critique provided shows that these recommendations have major limitations: they did not state treatment goals and contradict existing guidelines; opportunities for providing access to innovation were missed when the therapeutic benefits of the products approved in the last decades were not included. A major reason for this is the inappropriate adoption of the GRADE methodology without adaptations and without considering treatment goals and patient-relevant outcomes.</p><p><strong>Conclusion: </strong>These recommendations may mislead healthcare professionals, payers and governments and therefore cannot serve the patient community well. They setback the advances made in haemophilia care because they overlook important available evidence and do not guide clinical practice to contemporary standards.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142789453","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":"EAHAD statement on the ISTH clinical practice guideline for treatment of congenital haemophilia A and B.","authors":"Pratima Chowdary, Maria Teresa Álvarez-Román, Fariba Baghaei, Robert Klamroth, Wolfgang Miesbach, Jan Blatny","doi":"10.1111/hae.15119","DOIUrl":"https://doi.org/10.1111/hae.15119","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142789451","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":"Giving Choice a Voice: Commentary on Development of the World Federation of Hemophilia Shared Decision-Making Tool","authors":"Leonard A. Valentino,&nbsp;Kate Khair","doi":"10.1111/hae.15133","DOIUrl":"10.1111/hae.15133","url":null,"abstract":"<p>The shared decision-making (SDM) tool developed by the World Federation of Hemophilia (WFH) provides a clear and concise overview of the process by which people with haemophilia (PwH) can collaborate with their healthcare professionals (HCPs) to engage and arrive at a therapeutic decision. This tool will be useful for all people with all bleeding disorders, not just PwH.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"5-6"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779988","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":"Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A","authors":"Shimin Yuan,&nbsp;Liang Hu,&nbsp;Juanfang Zhong,&nbsp;Xiao Hu,&nbsp;Xiaomeng Zhao,&nbsp;Zhenxing Wan,&nbsp;Sicong Zeng,&nbsp;Wen-Bin He,&nbsp;Feng Gu,&nbsp;Sheng-Peng Wang,&nbsp;Guangxiu Lu,&nbsp;Ge Lin,&nbsp;Juan Du","doi":"10.1111/hae.15140","DOIUrl":"10.1111/hae.15140","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Haemophilia A (HA) is a rare bleeding disorder caused by variants in F8. Although traditional mutational analyses have identified numerous pathogenic variants, the aetiology of HA in certain patients remains unclear. Furthermore, female patients with severe HA are rare.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To investigate the molecular defects underlying severe HA in two patients and provide personalised reproductive interventions for their families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two patients diagnosed with severe HA without other clinical phenotypes were enrolled in the study. A combination of whole-exome sequencing, real-time quantitative polymerase chain reaction and long-read sequencing (LR-sequencing) was performed to reveal the molecular defects of them, followed by the application of different reproductive intervention strategies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Proband 1, a 29-year-old man with FVIII activity of 0.8%, did not exhibit common F8 variants, including Inv1 or Inv22, in the coding region. However, he carried a rare maternal novel inversion on ChrX:154148973_154170321, spanning approximately 21.345 Kbp, with breakpoints in introns 13 and 14 of F8. Finally, the couple of Proband 1 opted for assisted reproductive technology using preimplantation genetic testing and successfully conceived. Proband 2, a 20-year-old female with severe HA and FVIII activity of 0.6%, carried inv22 of F8. Further investigation combining whole exome sequencing (WES) and pedigree analysis revealed that she carried a maternal cross-deletion encompassing exons 1–22 of F8, FUNDC2, BRCC3 and CLIC2, along with a de novo missense variant c.5852T&gt;C (p.Leu1951Ser) on her paternal X-chromosome. Chromosome X-inactivation (XCI) analysis demonstrated a highly skewed inactivation of the maternal X chromosome, with a ratio of 98:2. Subsequently, prenatal diagnosis confirmed that the third child in this family did not carry any of the F8 variants present in Proband 2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings provide novel insights into the genetic aetiology of HA and emphasise the importance of a definitive diagnosis in guiding genetic counselling and personalised reproductive interventions for affected individuals and their families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"148-155"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779987","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}