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ImpaHCta-Haemophilia Carriers Quality of Life Assessment. impahcta血友病携带者生活质量评估。
IF 3 2区 医学
Haemophilia Pub Date : 2025-07-08 DOI: 10.1111/hae.70082
Diana Carneiro-Leão, Rita Queirós-Pereira, Sofia Teixeira, Lídia Costa, Teresa Mota, Inês Moreira, Manuela Carvalho, Susana Nobre-Fernandes, Manuela Lopes, Fernando Araújo
{"title":"ImpaHCta-Haemophilia Carriers Quality of Life Assessment.","authors":"Diana Carneiro-Leão, Rita Queirós-Pereira, Sofia Teixeira, Lídia Costa, Teresa Mota, Inês Moreira, Manuela Carvalho, Susana Nobre-Fernandes, Manuela Lopes, Fernando Araújo","doi":"10.1111/hae.70082","DOIUrl":"https://doi.org/10.1111/hae.70082","url":null,"abstract":"<p><strong>Introduction: </strong>Early identification of female haemophilia carriers (HC) before menarche is important to prevent potential heavy menstrual bleeding, provide preconception and prenatal care, render effective delivery and postpartum management and provide proper care towards haemostatic challenges.</p><p><strong>Aim: </strong>Evaluate HC women's bleeding phenotype and assess health-related quality of life (HRQOL).</p><p><strong>Methods: </strong>Cross-sectional, non-interventional, single centre study evaluating the bleeding tendency and quality of life of female adult haemophilia A or B carriers, compared with a healthy adult female control group. We used the International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool (ISTH-BAT), to evaluate bleeding phenotype, and the Portuguese version of the Short Form-36 (SF-36) questionnaire, to assess HRQOL. Clotting factor activity (%) and the F8 or F9 gene variant of HC were determined.</p><p><strong>Results: </strong>Median ISTH-BAT score was higher in carriers compared to noncarriers (2, [IQR 0-6] vs. 0, [IQR 0-1], p < 0.001). HC had significantly lower median scores in physical (84.8% vs. 90.7%, p = 0.01) and mental (70.2% vs. 82.1%, p < 0.001) SF-36 components than controls. The subgroup of HC with increased bleeding tendency (ISTH-BAT score ≥ 6) presented significantly lower clotting factor levels and lower scores in all SF-36 domains than the other HC. HC F8 and F9 pathogenic variants showed no significant influence on bleeding phenotype, factor levels or HRQOL.</p><p><strong>Conclusion: </strong>Our HC cohort presented worse HRQOL when compared to the general female age-matched population without a direct correlation with FVIII/FIX levels. Carriers with the severe bleeding phenotype tend to have significantly lower clotting factor levels.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583754","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}
引用次数: 0
Nationwide Survey of Laboratory Practices for Factor VIII Inhibitor Detection in China. 全国因子VIII抑制剂检测实验室操作情况调查。
IF 3 2区 医学
Haemophilia Pub Date : 2025-07-08 DOI: 10.1111/hae.70084
Yuhua Wang, Xinyao Kong, Hongyuan Wei, Chunjun Jiang, Qi Sun, Zhijian Xiao, Renchi Yang, Feng Xue
{"title":"Nationwide Survey of Laboratory Practices for Factor VIII Inhibitor Detection in China.","authors":"Yuhua Wang, Xinyao Kong, Hongyuan Wei, Chunjun Jiang, Qi Sun, Zhijian Xiao, Renchi Yang, Feng Xue","doi":"10.1111/hae.70084","DOIUrl":"https://doi.org/10.1111/hae.70084","url":null,"abstract":"<p><strong>Introduction: </strong>The Bethesda assay (BA) and the Nijmegen-Bethesda assay (NBA) are commonly used to measure inhibitors in patients with haemophilia A (HA). The laboratory results of inhibitor assays have been demonstrated to be highly variable.</p><p><strong>Aims: </strong>To understand the current testing methods used in different laboratories in China and promote improvements in laboratory detection.</p><p><strong>Methods: </strong>An external quality assurance (EQA) survey of FVIII inhibitor testing was conducted by the Chinese Alliance for Blood Disease and Tianjin Blood Disease Medical Quality Control Centre to evaluate the testing methods used.</p><p><strong>Results: </strong>Seventy-eight questionnaires and matched EQA responses were received. A total of 94.9% of participating centres reported the use of BA for the FVIII inhibitor assay. Five EQA samples revealed titres and coefficients of variation (CVs) of 0.7 BU/mL (0-1.9 BU/mL; CV = 63.9%), 2.0 BU/mL (0.6-4.8 BU/mL; CV = 40.7%), 5.6 (2.3-11.6 BU/mL, CV = 33.4%), 14.6 (4.8-27.2 BU/mL, CV = 32.8%) and 37.2 (11.5-80.0 BU/mL, CV = 35.2%), respectively. About 37% laboratories failed to detect low-level inhibitors of approximately 1 BU/mL. The overall results of Dade Actin were lower than those of other APTT reagents.</p><p><strong>Conclusions: </strong>There is a wide variety in the stages of inhibitor testing, and further local standardization is required to improve interlaboratory comparison of factor VIII inhibitor assay.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583756","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}
引用次数: 0
Coagulation Potential in Haemostatic Agents Concomitant With Low Concentration of Emicizumab Under Severe Haemophilia A State. 在严重血友病A状态下,低浓度Emicizumab伴随的止血药的凝血电位。
IF 3 2区 医学
Haemophilia Pub Date : 2025-07-08 DOI: 10.1111/hae.70087
Yuki Kawasaki, Yuto Nakajima, Keiji Nogami
{"title":"Coagulation Potential in Haemostatic Agents Concomitant With Low Concentration of Emicizumab Under Severe Haemophilia A State.","authors":"Yuki Kawasaki, Yuto Nakajima, Keiji Nogami","doi":"10.1111/hae.70087","DOIUrl":"https://doi.org/10.1111/hae.70087","url":null,"abstract":"<p><strong>Background: </strong>Steady-state plasma concentrations of emicizumab in people with haemophilia A (PwHA) range from approximately 30 to 50 µg/mL, although some PwHA treated effectively with low doses of emicizumab have been reported. Little information is available, however, on the coagulation potential of bypassing agents (BPAs) under low concentration of emicizumab.</p><p><strong>Aim: </strong>To assess the coagulation potential of BPAs in PwHA plasma at low concentration of emicizumab.</p><p><strong>Methods: </strong>In FVIII-deficient plasmas spiked with emicizumab (2.5-10 µg/mL), concomitant effects of FVIII (1.0 IU/mL) or BPAs (recombinant (r)FVIIa; corresponding to 90 and 180 µg/kg, activated prothrombin complex concentrates (aPCC); 50 and 100 IU/kg, plasma-derived FVIIa/FX (pd-FVIIa/FX); 60 and 120 µg/kg) were assessed by tissue factor-triggered thrombin generation assay. In 10 emicizumab-treated PwHA plasmas on the loading and maintenance phases (mean plasma emicizumab concentration; 15 ± 2 and 50 ± 4 µg/mL, respectively), coagulation potential in them spiked with BPAs (rFVIIa 90, 270 µg/kg, aPCC 50 IU/kg and pd-FVIIa/FX 60 µg/kg) was monitored.</p><p><strong>Results: </strong>The Peak thrombin (PeakTh) in FVIII-deficient plasma spiked with emicizumab (2.5-10 µg/mL) and FVIII was comparable to that spiked with FVIII alone, and that spiked with emicizumab and BPA were mildly to evidently greater than that spiked with BPA alone. In emicizumab-treated PwHA plasmas, the aPCC or pd-FVIIa/FX increased coagulation potentials. The rFVIIa (90 µg/kg) did not enhance coagulation potentials on the loading phase but improved them on the maintenance phase. The rFVIIa (270 µg/kg) enhanced coagulation potentials on the loading phase.</p><p><strong>Conclusion: </strong>We should adjust BPA dosage in PwHA under low concentration of emicizumab.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583693","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}
引用次数: 0
Macrothrombocytopaenia: More to Fear Than Just Low Platelet Count. 巨血小板减少症:比血小板计数低更可怕。
IF 3 2区 医学
Haemophilia Pub Date : 2025-07-08 DOI: 10.1111/hae.70086
Georges-Etienne Rivard, Clémence Merlen, Alexandre Rouette, Natalie Mathews, Arnaud Bonnefoy, Tiago Nava, Line Leduc, Anne-Marie Laberge, Vincent-Philippe Lavallée
{"title":"Macrothrombocytopaenia: More to Fear Than Just Low Platelet Count.","authors":"Georges-Etienne Rivard, Clémence Merlen, Alexandre Rouette, Natalie Mathews, Arnaud Bonnefoy, Tiago Nava, Line Leduc, Anne-Marie Laberge, Vincent-Philippe Lavallée","doi":"10.1111/hae.70086","DOIUrl":"https://doi.org/10.1111/hae.70086","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583755","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}
引用次数: 0
Developing a Two-Sided Decision Box to Facilitate Shared Decision-Making for Switching From Conventional to Pharmacokinetic-Tailored Prophylaxis in Haemophilia. 开发一个双向决策盒,促进血友病从传统预防转向药代动力学定制预防的共同决策。
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-29 DOI: 10.1111/hae.70072
Arun Keepanasseril, Athena Mancini, Megan S Lowe, Noella Noronha, Alfonso Iorio
{"title":"Developing a Two-Sided Decision Box to Facilitate Shared Decision-Making for Switching From Conventional to Pharmacokinetic-Tailored Prophylaxis in Haemophilia.","authors":"Arun Keepanasseril, Athena Mancini, Megan S Lowe, Noella Noronha, Alfonso Iorio","doi":"10.1111/hae.70072","DOIUrl":"https://doi.org/10.1111/hae.70072","url":null,"abstract":"<p><strong>Introduction: </strong>Decision-making in haemophilia is challenging due to the small evidence base, disease heterogeneity, and inter-patient variability. Shared decision-making (SDM) supports patient-clinician decisions.</p><p><strong>Aim: </strong>Creation of a two-sided decision box facilitating SDM for haemophilia patients switching from conventional (weight-based) to pharmacokinetic driven individualized prophylaxis.</p><p><strong>Methods: </strong>We developed an SDM tool as suggested by Giguere et al. A stakeholder discussion with haemophilia treaters and patients identified goals, burden, values and preferences. Benefits and harms of key questions were described with a common metric and base. A systematic review identified relevant evidence. PubMed, Medline, Embase, CINAHL, Cochrane Reviews and Cochrane Trials were searched from inception to June 2022. Original articles reporting switches from conventional to individualized prophylaxis within the same product class were included. Evidence from the review and discussion guided the design of the decision box. Feedback informed multiple iterations before the final version.</p><p><strong>Results: </strong>A total of 569 titles and abstracts were screened, yielding 88 full texts. Eight studies met inclusion criteria: six reported on bleeding rates, four on dosing interval, three on factor consumption, three on quality of life, two on adherence, and two on costs. One study recommended SDM for tailored prophylaxis. Discussions unanimously suggested decision aids to facilitate the choice to switch to tailored prophylaxis. Clinicians highlighted the need for evidence on treatment individualization, while patients valued viewing relevant examples.</p><p><strong>Conclusion: </strong>Creating decision tools for haemophilia is challenging due to low quantity and quality of evidence. Our decision box is ready for use with careful application of clinical judgement.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527660","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}
引用次数: 0
Treatment and Disease Burden in a Cohort of People With Haemophilia Without Inhibitors in the United States. 在美国无抑制剂血友病患者队列中的治疗和疾病负担
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-27 DOI: 10.1111/hae.70078
Allison P Wheeler, Emily Cibelli, Gillian Hanson, Cléa Percier, Thomas Porstmann, Naveen Shridhar, Amy Shapiro
{"title":"Treatment and Disease Burden in a Cohort of People With Haemophilia Without Inhibitors in the United States.","authors":"Allison P Wheeler, Emily Cibelli, Gillian Hanson, Cléa Percier, Thomas Porstmann, Naveen Shridhar, Amy Shapiro","doi":"10.1111/hae.70078","DOIUrl":"https://doi.org/10.1111/hae.70078","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia is a bleeding disorder caused by a deficiency in coagulation factors VIII or IX. Great advances in haemophilia treatment have been achieved in recent decades, with a range of products for prophylaxis now available, the ability to individualise therapy, and resultant improvements in life expectancy and quality of life. Despite these advances, there remains an unresolved burden, both from the disease and its treatment. Real-world data provide an opportunity to understand the experiences of people with haemophilia and gain insight into the areas of greatest unmet need.</p><p><strong>Aim: </strong>To assess the treatment and disease burden of haemophilia using real-world data.</p><p><strong>Methods: </strong>Medical records data and patient-reported outcomes from a self-selected cohort of 446 people with haemophilia without inhibitors across the United States were combined using an online research platform. Participants' treatment and disease burdens were assessed using the Hemophilia-Treatment Experience Measure (Hemo-TEM) and the patient-reported outcomes measurement information system (PROMIS)-29, respectively. Results were stratified by haemophilia type and disease severity.</p><p><strong>Results: </strong>These real-world data indicated that treatment and disease burden are experienced by people with haemophilia regardless of treatment regimen or severity of disease. The domains most affected by treatment burden were physical impact and emotional impact; the domains most affected by disease burden were physical functioning, pain interference, depression and anxiety.</p><p><strong>Conclusion: </strong>This underscores how the perspectives of people with haemophilia in real-world settings represent a valuable adjunct to clinical trial data. Such insights can potentially contribute to guide individualised treatment options and help address current unmet needs.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"e70078"},"PeriodicalIF":3.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511798","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}
引用次数: 0
Pathogenesis of Haemophilia in 20 Women and Girls. 20名妇女和女童血友病的发病机制。
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-27 DOI: 10.1111/hae.70074
Lei Wang, Jia Yang, Juan Ren, Lidong Zhao, Xiaomei Lu, Jingsheng Wu, Mei Hong, Min Zhou, Xiaomin Wang, Shimei Lian, Liya He, Jian Gu, Wei Xie, Shu Chen, Weiqun Xu, Linhua Yang, Gang Wang
{"title":"Pathogenesis of Haemophilia in 20 Women and Girls.","authors":"Lei Wang, Jia Yang, Juan Ren, Lidong Zhao, Xiaomei Lu, Jingsheng Wu, Mei Hong, Min Zhou, Xiaomin Wang, Shimei Lian, Liya He, Jian Gu, Wei Xie, Shu Chen, Weiqun Xu, Linhua Yang, Gang Wang","doi":"10.1111/hae.70074","DOIUrl":"https://doi.org/10.1111/hae.70074","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511797","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}
引用次数: 0
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients. 整合下一代测序到常规分子诊断遗传性凝血因子缺陷:来自西班牙患者的真实世界数据。
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-27 DOI: 10.1111/hae.70075
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo-Vizcaya, Cristina Marzo-Alonso, Maria-Fernanda López-Fernández, Mariana Canaro, María Falcón-Rodríguez, Ángela Cortes-Vidal, Mario A Rios de Paz, José Antonio Rodríguez-García, Ana Moreto-Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal
{"title":"Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.","authors":"Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo-Vizcaya, Cristina Marzo-Alonso, Maria-Fernanda López-Fernández, Mariana Canaro, María Falcón-Rodríguez, Ángela Cortes-Vidal, Mario A Rios de Paz, José Antonio Rodríguez-García, Ana Moreto-Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal","doi":"10.1111/hae.70075","DOIUrl":"https://doi.org/10.1111/hae.70075","url":null,"abstract":"<p><strong>Introduction: </strong>Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next-generation sequencing (NGS) technology have enabled high-throughput methods for molecular ICFD diagnosis. However, detailed descriptions of clinical applications and routine laboratory experiences in this field remain scarce.</p><p><strong>Aim: </strong>This study presents the results from a real-world experience using an NGS-based gene panel for routine molecular diagnosis, applied to more than 500 ICFD patients in Spain.</p><p><strong>Methods: </strong>A custom NGS gene panel targeting 22 ICFD-related genes was validated using 20 patients with known variants. Subsequently, the panel was applied to 515 ICFD patients from 28 Spanish hospitals. Structural variants were detected by multiplex ligation-dependent probe amplification.</p><p><strong>Results: </strong>Among the 515 patients analysed, 402 had complete phenotypic data specified in the genetic study form, 83 had incomplete data, and 30 were potential haemophilia carriers. Identification disease-causing variant rates were 69%, 58% and 53%, respectively. Candidate variants were identified in 74% of cases. A total of 460 variants across 18 genes were identified, 302 unique variants, with 37% being novel disease-causing variants.</p><p><strong>Conclusion: </strong>This study represents the largest analysis of ICFD patients conducted in Spain, providing significant insights into the molecular epidemiology of these disorders. It underscores the critical role of NGS in routine clinical practice while addressing challenges faced by genetic laboratories. The findings highlight a growing shift among haematologists towards integrating genetic studies early in diagnostic workflows alongside phenotypic assessments to enhance the accuracy and efficiency of ICFD diagnosis.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"e70075"},"PeriodicalIF":3.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511796","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}
引用次数: 0
Factors Influencing Symptoms of Depression, Anxiety and Stress in Patients With Haemophilia. 血友病患者抑郁、焦虑和应激症状的影响因素
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-27 DOI: 10.1111/hae.70079
Alexander Schmidt, Fabian Tomschi, Pia Möllers, Marius Brühl, Heinrich Richter, Johannes Oldenburg, Andreas Christian Strauss, Thomas Hilberg
{"title":"Factors Influencing Symptoms of Depression, Anxiety and Stress in Patients With Haemophilia.","authors":"Alexander Schmidt, Fabian Tomschi, Pia Möllers, Marius Brühl, Heinrich Richter, Johannes Oldenburg, Andreas Christian Strauss, Thomas Hilberg","doi":"10.1111/hae.70079","DOIUrl":"https://doi.org/10.1111/hae.70079","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with haemophilia (PwH) often suffer from psychological symptoms such as depression or anxiety. To date, uncertainty exists about the determinants predicting worse psychological outcomes. Therefore, this study aimed to investigate the extent of depressive, anxiety and stress-related symptoms in PwH compared to the healthy population and determine the impact of disease-specific and arthropathy-related parameters.</p><p><strong>Methods: </strong>Levels of depression, anxiety, stress and overall emotional distress were queried in a total of 379 PwH and 271 healthy controls by handing out the Depression, Anxiety and Stress Scale 21. In addition, disease-specific variables (e.g., type, severity, viral infections), pain intensity (NRS from 0 to 10), pain persistence (Likert-scale from 1 to 6), pain sensitivity (pressure pain thresholds [PPT]) and the orthopaedic joint score (Haemophilia Joint Health Score v2.1; HJHS) were assessed to analyse associations with psychological symptoms.</p><p><strong>Results: </strong>PwH had higher scores for depression, anxiety, stress and overall emotional distress compared to the healthy cohort. Regarding disease-specific outcomes, only PwH with hepatitis or HIV showed higher scores for depression (hepatitis, p = 0.020), stress (hepatitis, p = 0.005; HIV, p = 0.048) and overall emotional distress (hepatitis, p = 0.020). Spearman's rank correlation further revealed significant associations between NRS, pain persistence, PPT and HJHS with all psychological outcomes, though most effect sizes were weak.</p><p><strong>Conclusion: </strong>These results provide further evidence for a poorer psychological profile in PwH compared to the healthy population. Particularly, pain-related outcomes, but also joint degeneration and the presence of viral infections, are related to enhanced psychological symptoms.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511795","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}
引用次数: 0
Switching From Standard to Extended Half-Life Coagulation Factor Replacement in Haemophilia: Clinical Outcomes and Costs of Care in Finland. 血友病从标准到延长半衰期凝血因子替代的转换:芬兰的临床结果和护理成本。
IF 3 2区 医学
Haemophilia Pub Date : 2025-06-21 DOI: 10.1111/hae.70067
Mirkka Koivusalo, Timea Szanto, Tuomas Kovalainen, Aino Vesikansa, Outi Laine, Anu Partanen, Timo Siitonen, Marko Vesanen, Juha Mehtälä, Nina Sarnesto, Johanna Haapkylä, Anna-Elina Lehtinen, Riitta Lassila
{"title":"Switching From Standard to Extended Half-Life Coagulation Factor Replacement in Haemophilia: Clinical Outcomes and Costs of Care in Finland.","authors":"Mirkka Koivusalo, Timea Szanto, Tuomas Kovalainen, Aino Vesikansa, Outi Laine, Anu Partanen, Timo Siitonen, Marko Vesanen, Juha Mehtälä, Nina Sarnesto, Johanna Haapkylä, Anna-Elina Lehtinen, Riitta Lassila","doi":"10.1111/hae.70067","DOIUrl":"10.1111/hae.70067","url":null,"abstract":"<p><strong>Introduction: </strong>Real-world data are needed to evaluate treatment implementation, outcomes and costs of care in haemophilia patients switching prophylaxis from standard half-life (SHL) to extended half-life (EHL) clotting factor concentrates (CFCs).</p><p><strong>Aim: </strong>We characterised treatment regimens, annual bleeding rate (ABR), adherence and costs in a nationwide Finnish haemophilia A (HA) and B (HB) cohort on prophylaxis, including non-switchers and switchers from SHL to EHL CFC.</p><p><strong>Methods: </strong>This retrospective register study of adult patients with HA and HB was performed in University Hospitals during 2016-2021. Clinical and healthcare data were captured from electronic health records and national healthcare registers.</p><p><strong>Results: </strong>Majority, 74% of HA and 71% of HB patients, switched from SHL to EHL. Thereafter, weekly mean infusions of CFC decreased (FVIII SHL 2.8, EHL 2.2; FIX SHL 1.6, EHL 0.9; p < 0.001). The mean annual consumption (international units, IU) increased by 18% from 219,534 per HA patient during SHL to 258,317 during EHL (p < 0.05) and declined per HB patient by 28% from 221,685 to 160,209 (p < 0.01). ABR appeared to decline after the switch in HA (mean SHL 2.8, EHL 0.9) and HB (SHL 1.6, EHL 0.8), while treatment adherence improved in HA from 81% to 95% (p < 0.01). The mean annual total costs of care in HA were €176,979 for SHL and €195,760 for EHL. In HB, the costs increased from €180,930 to €236,208 (p < 0.01).</p><p><strong>Conclusions: </strong>Majority of patients on prophylaxis switched to EHL. The switch alleviated the infusion regimen, tended to lower bleeding rates and improved adherence with somewhat increased costs.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340038","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}
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