Haemophilia最新文献

{"title":"High Prevalence of Platelet Function Disorders in Women Referred for Surgical Management of Refractory Heavy Menstrual Bleeding.","authors":"Alison Delaney, Evangelos I Kritsotakis, Kevin Horner, Steve Kitchen, Jennifer Sedcole, Ted Baxter, Rhona M Maclean, Michael Makris, Clare V Samuelson","doi":"10.1111/hae.70016","DOIUrl":"https://doi.org/10.1111/hae.70016","url":null,"abstract":"<p><strong>Introduction: </strong>Heavy menstrual bleeding (HMB) is a common presenting symptom in women with bleeding disorders, yet haemostatic testing is sometimes overlooked, even when refractory HMB requires surgical intervention.</p><p><strong>Aim: </strong>To determine the prevalence of bleeding disorders in women referred for surgical management of HMB and investigate screening approaches for bleeding disorders in this population.</p><p><strong>Methods: </strong>Women with refractory HMB referred for surgical management were enrolled prospectively and underwent a detailed haemostatic investigation. The International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT) and PFA-100 assay were interrogated as screening tools for bleeding disorders. Multiplate whole blood impedance aggregometry (WBIA) was compared to the current gold-standard lumiaggregometry testing for platelet dysfunction.</p><p><strong>Results: </strong>Fifty women underwent laboratory testing. Sixteen percent (95% confidence interval [CI] 7.2%-29.1%) were diagnosed with platelet function defects based on persistently abnormal lumiaggregometry results. No other clinically significant abnormalities were diagnosed. Women were more likely to be diagnosed with platelet dysfunction if they had failed a greater number of prior therapies, particularly prior endometrial ablation. The ISTH-BAT lacked diagnostic accuracy, even at the calculated optimal cutoff value, and PFA-100 assay lacked sensitivity. Multiplate WBIA was inferior to lumiaggregometry for the detection of platelet function disorders, with sensitivity of 62.5% (95% CI 24.5%-91.5%) and specificity of 87.5% (95% CI 73.2%-95.8%).</p><p><strong>Conclusion: </strong>Study findings support platelet function analysis by lumiaggregometry in women with refractory HMB requiring surgery. Accurate diagnosis would allow targeted haemostatic therapy and implementation of additional perioperative safety measures if surgery is still required.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536988","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":"Systematic Literature Review of Outcomes Associated With Adherence to Haemophilia Drug Therapy.","authors":"Cynthia Khanji, Weyinmi Nuabor, Travis Gould, Hae Kyung Kim, Stephanie Barrows, Brittney Herbel, Annete Njue","doi":"10.1111/hae.15153","DOIUrl":"https://doi.org/10.1111/hae.15153","url":null,"abstract":"<p><strong>Introduction: </strong>Prophylactic therapy improves clinical and quality of life (QoL) outcomes in patients with haemophilia; however, this effect could be influenced by the degree of treatment adherence. Adherence to therapy may be difficult due to the administration mode and the frequency of self-infusions. There is a need to investigate the effect of treatment adherence on clinical, humanistic and economic outcomes in a real-world setting.</p><p><strong>Aim: </strong>A systematic literature review (SLR) was performed to describe the impact of adherence to haemophilia drug therapies on clinical, humanistic and economic outcomes.</p><p><strong>Methods: </strong>Embase, MEDLINE and the Cochrane Library were searched for English language articles published after 22 June 2013; the search was conducted on 22 June 2023. No geographic limits were applied. Twenty articles met the inclusion criteria.</p><p><strong>Results: </strong>The studies investigated associations between treatment adherence and bleeding, joint health, inhibitor development, pain, QoL, daily activity/work productivity (WP), cognitive function and healthcare resource use. Fifteen studies reported that better adherence to drug therapy in patients with haemophilia is associated with better outcomes, including a reduction in bleeding risk, improved joint structure and function, less chronic pain, better health-related QoL (HRQoL), lower activity impairment (AI), less school/work absenteeism, higher WP and better cognitive function. Two studies reported mixed results, with adherence being associated with some outcomes but not others. Five studies reported no association.</p><p><strong>Conclusion: </strong>This SLR found associations between greater adherence to haemophilia drug therapies and better results on clinical, humanistic and economic outcomes, indicating that patients with haemophilia would benefit from improvements in treatments that promote adherence.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491752","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":"Impact of Systematic Joint Examination (Ultrasound, Functional and Physical) on Treatment Management Decisions in Patients With Haemophilia A in France: Final Data From the Prospective, Observational A-MOVE Study.","authors":"Nicolas Drillaud, Virginie Barbay, Jean Baptiste Valentin, Romain Jailler, Aurélien Lebreton, Brigitte Pan-Petesch, Sabine Marie Castet, Birgit Frotscher, Laurent Frenzel, Sandrine Jousse-Joulin, Hervé Chambost, Mikaela Alenäs, Markus Fusser, Corinne Gandossi, Meriem Zidi, Oussama Mahdout, Yohann Repessé","doi":"10.1111/hae.70012","DOIUrl":"https://doi.org/10.1111/hae.70012","url":null,"abstract":"<p><strong>Background: </strong>Haemophilia management aims to prevent bleeding and preserve joint function. Changes in patients' joint health may influence physicians' decisions to adjust treatment. The Haemophilia Joint Health Score (HJHS) and Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score assess joint health but are not routinely used.</p><p><strong>Aim: </strong>To evaluate whether systematic joint examination with HJHS and/or HEAD-US had an impact on treatment management decisions in France, using final data from the A-MOVE study.</p><p><strong>Methods: </strong>A-MOVE (NCT04133883) was a 12-month prospective, multicentre study, which enrolled persons with haemophilia A (all severities, aged 6-40 years) treated prophylactically or on demand with standard/extended half-life FVIII replacement. At baseline, 6 and 12 months, HJHS/HEAD-US and changes in patients' management were assessed.</p><p><strong>Results: </strong>Eighty-six patients from 20 sites were included in the final analysis; 68 had HJHS/HEAD-US assessments at 12 months. Over 12 months, 24.4% (n = 21/86) of patients experienced an impact on their haemophilia management due to HJHS/HEAD-US scores; these decisions were impacted by HJHS in about half of the patients (52.4%, n = 11/21) and HEAD-US in almost all patients (95.2%, n = 20/21). Both assessments contributed to a change in management decisions in about half of the patients (47.6%, n = 10/21). Twenty-nine patients (33.7%) had haemophilia management decisions impacted by factors other than HJHS/HEAD-US, including physical examination findings (n = 9) and the occurrence of bleeding episodes (n = 8).</p><p><strong>Conclusions: </strong>Final data from the A-MOVE study show that systematic joint assessments, through functional/physical examination (HJHS) and ultrasound (HEAD-US), may impact treatment management decisions in persons with haemophilia A.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491750","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":"Development of a Single-Tube Reverse Transcription Real-Time PCR Assay for Diagnosis of F8 Intron 22 Inversion in Patients and Carriers of Haemophilia A.","authors":"Javier Arzuaga-Mendez, Lucia Insunza, María José Ojinaga, Ana Moretó, Maite Moreno-Gamiz, Miriam Vara-Pampliega, Juan Carlos Garcia-Ruiz, Cristina Sierra-Aisa","doi":"10.1111/hae.70014","DOIUrl":"https://doi.org/10.1111/hae.70014","url":null,"abstract":"<p><strong>Introduction: </strong>Intron 22 inversion mutation of F8 (inv22) is the most frequent cause of Haemophilia A (HA) and is present in approximately 45% of severe HA cases. This mutation disrupts F8 gene continuity, leading to a truncated protein. Traditional methods for detecting inv22, including inverse-shifting PCR and long-range PCR, are accurate but labour-intensive. F8 inv22 truncated mRNA transcript contains a short (51 base pairs) abnormal exon 23. Thus, reverse-transcription PCR has been proposed for the diagnosis of inv22 in patients with HA.</p><p><strong>Aim: </strong>The aim of this study was to design and validate a multiplex reverse-transcription real-time PCR (RT-qPCR) assay capable of detecting and differentiating between normal and inv22 F8 transcripts in a single reaction.</p><p><strong>Methods: </strong>We designed an RT-qPCR assay that employs specific primers and TaqMan probes to detect the exon 22 to 23 junction present in the normal F8 transcript, and the junction between exon 22 and the abnormal sequence only present in F8 transcripts harbouring inv22. We tested our assay in 14 HA patients (six with inv22 and eight with other mutations), four HA female carriers (two with inv22 and two with other mutations), and six negative controls.</p><p><strong>Results: </strong>F8 expression in peripheral blood RNA was sufficient to be detected by RT-qPCR. The assay showed perfect concordance within the cohort to identify inv22 in both patients and carriers.</p><p><strong>Conclusion: </strong>RT-qPCR is an accurate method for diagnosing inv22 in patients and HA carriers. Moreover, it is simpler and faster than previous methods.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491627","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":"American Thrombosis and Hemostasis Network: National Bleeding Disorders Foundation Data Commons: Better Together.","authors":"Tammuella E Chrisentery-Singleton, Philip M Gattone, Christine M Gerber, Kevin D Mills, Moses E Miles, Dawn Rotellini, Maria E Santaella, Leonard A Valentino, Crystal Watson, Michael Recht","doi":"10.1111/hae.70011","DOIUrl":"https://doi.org/10.1111/hae.70011","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472446","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's Heartland: Pain, Poverty and Patient Care in Faisalabad.","authors":"Eesha Yaqoob, Shiza Aftab, Noor-Ul-Ain Shah, Nimirta Sahitia, Saad Javed","doi":"10.1111/hae.70009","DOIUrl":"https://doi.org/10.1111/hae.70009","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia is an inherited bleeding disorder that causes significant pain and disability. Haemophilia A and B are the most common, with HemA affecting more men and being four times more prevalent.</p><p><strong>Methods: </strong>A cross-sectional study was conducted in Faisalabad, Pakistan, to assess pain severity in haemophilia patients based on sociodemographic factors and management approaches. Data were collected through structured interviews and analysed using SPSS version 27.0, examining associations between variables and pain severity.</p><p><strong>Results: </strong>A sample of 200 patients was selected from the 800 registered patients at a haemophilia treatment centre (HTC) in Faisalabad. All participants had severe haemophilia, with 65.5% residing in rural areas. Severe pain was reported by 58% of patients, with higher prevalence among rural residents (35% vs. 22.5% urban, p = 0.004) and those with monthly income below Rs. 15,000 (21%, p < 0.001). Plasma transfusion significantly reduced severe pain risk (OR = 0.59, 95% CI: 0.42-0.83, p = 0.003), while self-management methods increased it (OR = 1.79, 95% CI: 1.06-3.02, p = 0.03). Distance from treatment centres significantly impacted pain severity, with 21.5% of patients living within 10-50 miles reporting severe pain. Management practices significantly influenced patient outcomes (p < 0.001).</p><p><strong>Conclusion: </strong>Patients face significant pain management challenges owing to sociodemographic factors, low income and limited access to specialized care. Addressing these gaps requires early diagnosis, better access to treatment centres and multidisciplinary pain management strategies. While geographic and economic barriers are considered, future research should include detailed data on rural healthcare quality, assimilate longitudinal data and delve into the links between mental health, pain severity and treatment ease of access.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472447","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":"Investigation of the Relationship Between Self-Management and Kinesiophobia in Haemophiliac Individuals Experiencing Intra-Articular Bleeding.","authors":"Dilan Çiftci Akan, Mehmet Can Uğur, Esra Oksel","doi":"10.1111/hae.70013","DOIUrl":"https://doi.org/10.1111/hae.70013","url":null,"abstract":"<p><strong>Introduction: </strong>This study aims to examine the relationship between self-management skills and kinesiophobia in haemophilia patients. The findings of the study may contribute to the development of strategies that can help haemophilia patients overcome their fear of movement and improve their quality of life (QoL).</p><p><strong>Aim: </strong>This study is planned to examine the relationship between disease self-management in haemophiliac individuals and kinesiophobia that may arise from intra-articular bleeding associated with haemophilia.</p><p><strong>Methods: </strong>In this study, both descriptive and analytical research was conducted on individuals who are members of patient associations. Patient Identification Form, Chronic Disease Self-Management Scale and Tampa Scale for Kinesiophobia were used as data collection tools. Data were collected face to face. Descriptive statistics methods (mean, standard deviation) were used in the evaluation of study data. Quantitative data comparisons were made with the Student's t-test for normally distributed parameters and the Mann-Whitney U test for non-normally distributed parameters. When there were more than two groups, One-Way ANOVA was used, and in advanced analyses, linear regression analysis was used.</p><p><strong>Results: </strong>A positive correlation was found between the 'self-stigmatization' subdimension of the Chronic Disease Self-Management Scale and kinesiophobia. Additionally, a negative correlation was observed between healing compliance and kinesiophobia levels. Flexibility in healing cracks was found in the reduction of kinesiophobia.</p><p><strong>Conclusion: </strong>Self-management of the disease in hemophilic individuals affects compliance with treatment, kinesiophobia, activity level and QoL.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472449","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":"Psychosocial Care During Novel Therapies in Haemophilia: A Psychological Framework.","authors":"Lotte Haverman, Lorynn Teela, Gráinne O'Brien, Petra Bučková, Gaby Golan, Gloria Rooney, Karolien Bartels, Ana Torres-Ortuño, Christina Burgess","doi":"10.1111/hae.70008","DOIUrl":"https://doi.org/10.1111/hae.70008","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440649","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":"Recommendations for Psychosocial Support during Gene Therapy: Results From an EAHAD Interdisciplinary Roundtable.","authors":"Lorynn Teela, Gráinne O'Brien, Petra Bučková, Gaby Golan, Gloria Rooney, Karolien Bartels, Ana Torres-Ortuño, Christina Burgess, Lotte Haverman","doi":"10.1111/hae.70005","DOIUrl":"https://doi.org/10.1111/hae.70005","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414006","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 Activity and Factor VIII Inhibitors Can Be Measured Accurately in Plasma Containing Mim8 by Using Specific Chromogenic Assays.","authors":"William Pickering, Mary Robinson, Caroline Cogswell, Wan Hui Ong Clausen, Karin Nana Weldingh, Mirella Ezban","doi":"10.1111/hae.70007","DOIUrl":"https://doi.org/10.1111/hae.70007","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with Haemophilia A treated with Mim8 may require concomitant Factor VIII (FVIII) replacement; hence, accurate assessment of FVIII activity (FVIII:C) and FVIII inhibitors in the presence of Mim8 is important.</p><p><strong>Aim: </strong>Assess which chromogenic substrate assays (CSAs) accurately monitor FVIII:C and FVIII inhibitor levels in the presence of Mim8.</p><p><strong>Methods: </strong>FVIII and Mim8 were spiked into congenital FVIII-deficient plasma to obtain mixtures containing various FVIII:C levels (0-100 IU/dL) and Mim8 concentrations (0, 3, 6 and 12 µg/mL). Five CSAs using different activated Factor IX and X sources (bovine, bovine-human or human) were used to measure FVIII:C. Bovine and bovine-human CSAs were then used to measure FVIII:C of standard half-life (SHL) and extended half-life (EHL) FVIII products. FVIII inhibitor levels were assessed using two different bovine CSAs in congenital FVIII-deficient plasma spiked with various Mim8 concentrations (5, 10, 20 and 40 µg/mL) and FVIII inhibitor levels (0.2, 1.0 and 4.8 BU).</p><p><strong>Results: </strong>High levels of interference were observed using human CSAs. Bovine CSAs accurately measured FVIII:C of SHL and EHL FVIII products in the presence of Mim8 without interference. In bovine-human CSAs, interference was observed at 5 IU/dL FVIII, increasing up to four-fold with increasing Mim8 levels. FVIII inhibitor levels were accurately measured using bovine CSAs without Mim8 interference.</p><p><strong>Conclusion: </strong>FVIII:C of SHL and EHL products and FVIII inhibitor levels can be accurately monitored in the presence of Mim8 using bovine CSAs at all FVIII levels, and bovine-human CSAs at FVIII concentrations >20 IU/dL.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414003","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}