Haemophilia最新文献

{"title":"Efficacy and Safety of Aspiration and Intra-Articular Injection of Tranexamic Acid in Acute Knee Hemarthrosis of Adult Haemophilic Patients: A Randomized Clinical Trial Study.","authors":"Seyed Hadi Kalantar, Mohammadreza Razzaghof, Younes Noshadi, Mohammad Ayati Firoozabadi, Gholamreza Toogeh, Jeyran Zebardast, Katayoon Karimi, Behzad Nejad Tabrizi, Seyed Mohammad Javad Mortazavi","doi":"10.1111/hae.70000","DOIUrl":"https://doi.org/10.1111/hae.70000","url":null,"abstract":"<p><strong>Introduction: </strong>Hemarthrosis, particularly in the knee, accounts for most bleeding episodes in haemophilia. While joint aspiration has proven effective, the role of intra-articular (IA) tranexamic acid (TXA) in managing acute hemarthrosis remains unexplored.</p><p><strong>Aim: </strong>To assess the efficacy and safety of knee aspiration followed by IA TXA injection in acute haemophilic knee hemarthrosis.</p><p><strong>Methods: </strong>Forty-four adult haemophilia patients with acute knee hemarthrosis (< 24 h) were randomized to undergo joint aspiration with (TXA group) or without (non-TXA group) IA TXA (1.5 g/15 mL) injection. Both groups received 75 mL injections, including 5 mL of 2% lidocaine and additional 0.9% saline. Ultrasound confirmed hemarthrosis, and standardized factor replacement was given pre-procedure. Primary outcomes included knee range of motion (ROM) and visual analogue scale (VAS) for pain. The significance was set at p < 0.05.</p><p><strong>Results: </strong>Final analysis included 21 and 17 male patients in the TXA and non-TXA groups, respectively. The TXA group showed a significantly greater knee ROM on days 3, 7, and 14 (p < 0.05), with no differences beyond Day 14. VAS pain scores were significantly lower in the TXA group at 24 h, 3 days, and 7 days post-procedure (p < 0.05). TXA patients reported faster return to work (p = 0.004) and higher satisfaction (p = 0.01). Hemarthrosis recurrence was lower in the TXA group (5.9% vs. 14.3% at 6 weeks; 64.7% vs. 90.5% at 6 months), though differences were not statistically significant. No complications were observed.</p><p><strong>Conclusion: </strong>Joint aspiration with IA TXA is safe and effective for short-term ROM improvement and pain relief in acute haemophilic knee hemarthrosis.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364392","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":"Extension Study With rVIII-SingleChain in Previously Untreated Patients (PUPs) With Severe Haemophilia A.","authors":"Johnny Mahlangu, Maria Elisa Mancuso, Kathelijn Fischer, Claudia Djambas Khayat, Manuela Carvalho, Faraizah Abdul Karim, Shawn Jobe, Samantha Lucas, Blanca Salazar, Amy Suen, Brahm Goldstein, Wilfried Seifert, Thomas Chung, Christoph Königs","doi":"10.1111/hae.15151","DOIUrl":"https://doi.org/10.1111/hae.15151","url":null,"abstract":"<p><strong>Introduction: </strong>Clinical trials and real-world evidence have demonstrated the efficacy and safety of rVIII-SingleChain in previously treated patients with haemophilia A.</p><p><strong>Aim: </strong>To investigate the safety and efficacy of rVIII-SingleChain in previously untreated patients (PUPs).</p><p><strong>Methods: </strong>In an open-label, phase 3, extension study, PUPs with severe haemophilia A (FVIII <1%) received rVIII-SingleChain prophylactically or on-demand. The primary endpoints were incidence of high-titre (HT) inhibitor formation to FVIII, treatment success for major bleeding episodes and annualised spontaneous bleeding rate (AsBR).</p><p><strong>Results: </strong>Twenty-four PUPs (median age 1 year [range 0-5]) were treated with rVIII-SingleChain; median time on study was 35.0 months (range 2.4-54.0). Overall, six PUPs developed a HT inhibitor (>5 BU/mL) and six developed a low-titre (LT) inhibitor (≤5 BU/mL). The median number of exposure days at inhibitor development was 10 (interquartile range [IQR] 5.0-14.0). Of 11 inhibitor-positive PUPs (five HT, six LT) who continued rVIII-SingleChain therapy, nine (81.8%; three HT, six LT) achieved inhibitor eradication (<0.6 BU/mL). Median time to eradication was 14.3 weeks (IQR 9.8-53.8). Seventeen treatment-emergent adverse events in 12 PUPs (50.0%) were related to rVIII-SingleChain, mainly inhibitor development (14/17 events). Treatment was successful (haemostatic efficacy rated excellent or good) for 290/315 bleeding events (92.1%). During prophylactic therapy, inhibitor-negative PUPs had a median (IQR) AsBR of 0.52 (0.00-4.99) and annualised bleeding rate of 1.98 (0.77-11.23).</p><p><strong>Conclusion: </strong>RVIII-SingleChain demonstrated a satisfactory benefit:risk profile in PUPs, with a high treatment success rate and a low AsBR during prophylaxis, and was effective at eradicating inhibitors.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364404","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":"Tissue Transfer in the Management of Wound Complications in Patients With Haemophilia: Report of Two Cases.","authors":"Arman Vahabi, Volga Öztürk, Elcil Kaya Biçer, Ahmet Biçer, Semih Aydoğdu","doi":"10.1111/hae.15156","DOIUrl":"https://doi.org/10.1111/hae.15156","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064947","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":"Committee List","authors":"","doi":"10.1111/hae.15152","DOIUrl":"10.1111/hae.15152","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 S1","pages":"3"},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058863","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":"Abstract","authors":"","doi":"10.1111/hae.15148","DOIUrl":"10.1111/hae.15148","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 S1","pages":"4-229"},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058860","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":"Operationalising a Haemophilia Gene Editing Lexicon for Practical Use.","authors":"William McKeown, Cedric Hermans, Carmen Unzu, Mark A Kay, Flora Peyvandi, Penni Smith, Wolfgang Miesbach, Glenn F Pierce, Kate Khair, Leonard A Valentino, Steven W Pipe, Monisha Pillai, Micheala Jones, Virginie Delwart, Anil Sindhurakar, David E Gutstein, Craig M Kessler","doi":"10.1111/hae.15155","DOIUrl":"https://doi.org/10.1111/hae.15155","url":null,"abstract":"<p><strong>Introduction: </strong>Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims. Here we evaluate how a gene editing lexicon could be deployed to maximise impact and improve patient outcomes.</p><p><strong>Aim: </strong>To operationalise the gene editing lexicon for successful adoption by the haemophilia community.</p><p><strong>Methods: </strong>Through an innovative, iterative process, representatives from the haemophilia community, including multidisciplinary HCPs, PWH, and caregivers, with support from language strategy experts, developed a gene editing lexicon and evaluated operational aspects for real-world adoption of this resource.</p><p><strong>Results: </strong>A gene editing lexicon was developed, including infographics illustrating key concepts. Infographics were adapted from the lexicon to further clarify and communicate these concepts. Infographics were found to be a potentially vital tool for enhancing the practical use of the lexicon to promote shared decision-making and attain informed consent for gene editing therapies.</p><p><strong>Conclusion: </strong>A gene editing lexicon shows promise for improving the understanding of gene editing for all stakeholders in the haemophilia community. Ensuring the lexicon remains up to date with current therapies and appropriate strategies for adoption such as infographics will enable this resource to have maximum impact.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046426","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":"Haemophilia Infants Gross Motor Development: Comparisons With Full-Term and Preterm Infants of the Same Nationality.","authors":"Dimitrios Syrengelas, Athina Dettoraki, Aikaterini Michalopoulou, Paraskevi Kleisiouni, Tania Siahanidou, Christina T Moschou, Miltiades A Kyprianou, Platon Peristeris, Helen Pergantou","doi":"10.1111/hae.15149","DOIUrl":"https://doi.org/10.1111/hae.15149","url":null,"abstract":"<p><strong>Introduction: </strong>Infants with haemophilia, due to parental overprotection, have difficulty developing their full motor repertoire of typical gross motor development. It is of great clinical importance to evaluate the motor development of these infants with a standardized assessment tool.</p><p><strong>Aim: </strong>To study the gross motor development in infants with haemophilia, using the Alberta Infant Motor Scale (AIMS) and compare it with full-term (FT) and preterm infants (PT).</p><p><strong>Methods: </strong>Fifteen FT infants with severe or moderate haemophilia A and B were assessed with the AIMS (Group D). The scale is already standardized in FT Greek infants (Group A). Two groups of PT infants were also included, with gestational age >32 weeks and ≤32 weeks, Groups B and C, respectively. The mean Z-scores were tested with the ANOVA procedure, followed by post hoc pairwise comparisons with Bonferroni correction.</p><p><strong>Results: </strong>The four groups had significantly different mean Z-scores. Infants in Group A had a mean Z-score of 0 ± 1. Infants in Group B lagged significantly behind by one standard deviation. Preterm infants in Group C had a mean Z-score significantly lower than Group B. Infants in Group D had a mean Z-score significantly lower than Group C.</p><p><strong>Conclusions: </strong>Motor development in infants with haemophilia significantly lags behind both FT and PT infants. Differences in AIMS scores could be attributed to the reduction of movement activity, since infants with haemophilia are often deprived of certain positions, being held and carried in the parents' arms, as well as from free play time on the floor.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046420","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":"Comparison of Single Knee Arthroplasty and Bilateral Knee Arthroplasty in Haemophiliacs During a Single Operation: A Systematic Review and Meta-Analysis.","authors":"Yi Zhang, Hang Pei, Chao Wang, Guanyin Wang, Zan Shen, Jiang Hua, Bangjian He","doi":"10.1111/hae.15150","DOIUrl":"https://doi.org/10.1111/hae.15150","url":null,"abstract":"<p><strong>Background: </strong>Arthroplasty is the standard treatment for end-stage haemophilic knee arthritis; however, the choice between single knee arthroplasty (SKA) and bilateral knee arthroplasty (BKA) in a single operation remains controversial due to the risks specific to haemophiliacs.</p><p><strong>Methods: </strong>Two independent researchers conducted searches across CNKI, CBM, Wanfang, PubMed, Cochrane Library, Embase, and Web of Science, with the last search performed on 15 October 2024. Study results include joint function, complication and various cost. Literature quality was assessed using the Newcastle-Ottawa Scale (NOS). Outcomes were evaluated with fixed-effects or random-effects models, while heterogeneity and publication bias were also assessed.</p><p><strong>Results: </strong>Nine studies involving 309 haemophilia patients were included, with 166 in SKA group and 143 in BKA group. No statistically significant differences were observed between the SKA and BKA groups in range of motion (95% CI: -0.22 [-3.57, 3.13], p = 0.90), Hospital for Special Surgery score (95% CI: -2.13 [-4.89, 0.64], p = 0.13), flexion degree (95% CI: -2.38 [-7.22, 2.46], p = 0.33), cost (95% CI: -0.24 [-0.94, 0.45], p = 0.49), complication rate (95% CI: 1.31 [-0.79, 2.17], p = 0.29), hospital stay (95% CI: 0.25 [-2.06, 2.57], p = 0.83), and coagulation factor usage (p = 0.49). However, The SKA group outperformed the BKA group in terms of operative time, postoperative drainage, and transfusion volume (p < 0.001).</p><p><strong>Conclusions: </strong>Our study indicates that, apart from differences in operative time, transfusion volume, and blood loss, SKA and BKA show no significant differences in postoperative joint function, complication rates, or costs.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046411","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":"Deceased Donor With Hemophilia A: To Consider or Not for Liver Donation.","authors":"Jagadeesh Menon, Prithviraj Nabi, Naresh Shanmugam, Ashwin Rammohan, Rajesh Rajalingam, Mohamed Rela","doi":"10.1111/hae.15154","DOIUrl":"https://doi.org/10.1111/hae.15154","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046413","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":"Factor VIII Antibodies Demonstrate Type I or Type II Kinetics in Acquired Haemophilia A.","authors":"Kirollos Kamel, Sofia Sardo Infirri, Anne Riddell, Pratima Chowdary, Paul Batty","doi":"10.1111/hae.15144","DOIUrl":"https://doi.org/10.1111/hae.15144","url":null,"abstract":"<p><strong>Background: </strong>Acquired haemophilia A (AHA) is an acquired bleeding disorder resulting from autoantibodies against Factor VIII (FVIII). Previous studies have reported differences in FVIII inhibitor kinetics (type I or type II) in AHA compared to severe haemophilia A.</p><p><strong>Aim: </strong>To characterise inhibitor kinetics in AHA and evaluate the proportions displaying type I, II or indeterminate kinetics.</p><p><strong>Methods: </strong>Single-centre retrospective study of inhibitor kinetics in adults with AHA. Type I kinetics were defined as linear FVIII inhibition with ≥ 97% FVIII inactivation. Type II kinetics were defined as non-linear kinetics and inability to completely neutralise FVIII. Inhibitor titres were calculated using two methods outlined by the International Council for Standardisation in Haematology.</p><p><strong>Results: </strong>Baseline samples from 34 patients were included. Fifteen samples (44.1%) exhibited type I kinetics, 16 samples (47.1%) exhibited type II kinetics and 3 (8.8%) were indeterminate. Plateau mean residual FVIII:C was higher for inhibitors displaying type II compared to type I kinetics (18.6 vs. 2.9 IU/dL, p < 0.0001). Non-linear regression using a dose-response curve without categorisation for kinetics type yielded a poor fit (R² = 38%), which improved with refitting using categories of type I or II kinetics that explained 87% and 85% of the variability. The median difference in inhibitor titre between the two reporting methods was 5% and 15% in the type I and II kinetics groups, respectively.</p><p><strong>Conclusion: </strong>FVIII autoantibodies demonstrate either type I or type II kinetics. Greater discrepancy in reported inhibitor titres depending on the method used is seen for inhibitors with type II kinetics.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983208","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}