IF 3 2区医学

Haemophilia Pub Date : 2025-06-19 DOI: 10.1111/hae.70077

Tyler W Buckner, Craig Kessler, Giancarlo Castaman, Cédric Hermans, Victor Jiménez-Yuste, Johnny Mahlangu, Wolfgang Miesbach, Johannes Oldenburg, Michael Recht, Leonard A Valentino, Allison P Wheeler, Steven W Pipe

{"title":"Pain Reduction Following Eptacog Beta Treatment of Bleeding Episodes in Adolescents and Adults With Haemophilia A or B Complicated by Inhibitors.","authors":"Tyler W Buckner, Craig Kessler, Giancarlo Castaman, Cédric Hermans, Victor Jiménez-Yuste, Johnny Mahlangu, Wolfgang Miesbach, Johannes Oldenburg, Michael Recht, Leonard A Valentino, Allison P Wheeler, Steven W Pipe","doi":"10.1111/hae.70077","DOIUrl":"https://doi.org/10.1111/hae.70077","url":null,"abstract":"Introduction: Joint and muscle bleeding in persons with haemophilia (PwH) causes acute pain, an important patient-reported outcome for evaluating treatment response. Eptacog beta is a recombinant activated human FVII bypassing agent approved for the treatment and control of bleeding in PwH A or B with inhibitors (PwHABI) ≥12 years using initial dose regimens (IDRs) of 75 or 225 µg/kg.Aim: To evaluate pain reduction in PwHABI who treated bleeding episodes (BEs) with eptacog beta during the PERSEPT 1 trial.Methods: PwHABI were randomly assigned to 75 or 225 µg/kg IDRs for BE treatment. Participants reported pain levels at predefined treatment evaluation timepoints using a visual analogue scale (VAS). Pain analyses were stratified by age, IDR assignment, and baseline pain levels. The diagnostic potential for using VAS pain score reductions to assess treatment response was explored using receiver operating characteristic (ROC) analysis.Results: Five adolescents and 22 adults treated 468 BEs. Mean VAS scores decreased 30%-58% from baseline at 3 h post-initial eptacog beta infusion amongst age and IDR categories, with further VAS score reductions observed through 24 h. PwHABI with high baseline BE pain showed larger absolute VAS score reductions before ending treatment than PwHABI experiencing mild BE pain. The optimum VAS score percentage reduction cutoff for predicting treatment outcomes was 44%.Conclusion: Pain relief over 24 h was observed with eptacog beta treatment across IDR and age categories. This post hoc study demonstrates that percentage reduction from baseline VAS score influences perception of bleed resolution and can predict treatment outcomes.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"e70077"},"PeriodicalIF":3.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325304","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

Clotting Factor Concentration During Menstrual Phases in Women With and Without Heavy Menstrual Bleeding: A Systematic Review and Meta-Analysis. 有或没有大量月经出血的妇女月经期间凝血因子浓度：系统回顾和荟萃分析。

IF 3 2区医学

Haemophilia Pub Date : 2025-06-19 DOI: 10.1111/hae.70076

Anne de Vaan, Merel M Goedkoop, Paco M J Welsing, Nehalennia van Hanegem, Roger E G Schutgens, Karin P M van Galen

{"title":"Clotting Factor Concentration During Menstrual Phases in Women With and Without Heavy Menstrual Bleeding: A Systematic Review and Meta-Analysis.","authors":"Anne de Vaan, Merel M Goedkoop, Paco M J Welsing, Nehalennia van Hanegem, Roger E G Schutgens, Karin P M van Galen","doi":"10.1111/hae.70076","DOIUrl":"https://doi.org/10.1111/hae.70076","url":null,"abstract":"Background: Cyclic sex-hormone fluctuation impacts clotting factor concentrations, being lowest during the follicular phase of the menstrual cycle. This pattern is unexplored in women with heavy menstrual bleeding (HMB), but potentially affects the timely diagnosis of underlying bleeding disorders.Aim: Comparing clotting factor fluctuation in the follicular versus luteal phase, between women with and without HMB.Methods: A PubMed/MEDLINE systematic review on HMB and clotting factors. Articles reporting clotting factor concentrations in premenopausal women with and without HMB were included, categorized by follicular or luteal phase if the sampling moment was specified. A meta-analysis was performed and the effect of HMB on (cyclic) clotting factor concentrations was assessed.Results: A total of 21 out of 2158 articles were included. Clotting factors II, V, VII-XI, fibrinogen and von Willebrand factor (VWF) during the follicular and luteal phases were reported in women with HMB. All measurements in women with HMB were performed during the follicular or unspecified phase, hindering phase-specific assessment. Irrespective of phase, pooled measurements in women with HMB suggested elevated FVIII (pooled difference 21.8 IU/dL, 95% CI: 4.5-39.1, p = 0.01) and FV concentrations (pooled difference 15.8 IU/dL, 95% CI: 6.0-25.5, p = 0.002), but not VWF activity (pooled difference -11.0 IU/dL, 95% CI: -27.9 to 5.9, p = 0.20), compared to women without HMB.Conclusion: Based on meta-analysis of limited data, women with HMB tend to exhibit slightly higher FVIII and FV concentrations as compared to those without. More research is needed in the follicular phase of women with HMB to assess the effect of menstrual phases on HMB.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":"e70076"},"PeriodicalIF":3.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325302","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

Evaluation of One-Stage Assays for the Monitoring of Recombinant Human Factor IX Padua Activity After Etranacogene Dezaparvovec Gene Therapy. Etranacogene Dezaparvovec基因治疗后重组人因子IX Padua活性一期检测方法的评价。

IF 3 2区医学

Haemophilia Pub Date : 2025-06-18 DOI: 10.1111/hae.70053

Jan Astermark, Wolfgang Miesbach, Michiel Coppens, Sander Gielen, Jaap Twisk, Ricardo Dolmetsch, Stephanie Verweij, Paul E Monahan, Bruce M Ewenstein, Silpa Nuthalapati, Nick Galante, Guy Young

{"title":"Evaluation of One-Stage Assays for the Monitoring of Recombinant Human Factor IX Padua Activity After Etranacogene Dezaparvovec Gene Therapy.","authors":"Jan Astermark, Wolfgang Miesbach, Michiel Coppens, Sander Gielen, Jaap Twisk, Ricardo Dolmetsch, Stephanie Verweij, Paul E Monahan, Bruce M Ewenstein, Silpa Nuthalapati, Nick Galante, Guy Young","doi":"10.1111/hae.70053","DOIUrl":"https://doi.org/10.1111/hae.70053","url":null,"abstract":"Introduction: Accurate and reproducible measures of factor activity are required to guide clinical decision-making following gene therapy for haemophilia B (HB). Highly significant discrepancies have been observed in measurements of various factor IX (FIX) concentrates that carry molecular modifications to extend their half-life, arguing for the need for careful analysis of new HB treatment modalities with respect to FIX assay performance.Aim: To further characterise variability in FIX activity measured using different one-stage assays (OSAs) and chromogenic assays (CAs) in patients with HB receiving gene therapy utilising the FIX Padua variant and to assess whether assay differences were due to the FIX-Padua variant.Methods: FIX activity was assessed centrally (OSA and CA) and locally (OSA only) using plasma samples collected from a phase 2b and phase 3 study of etranacogene dezaparvovec and in an in vitro study of wild-type (wt) recombinant human FIX (rhFIX) and rhFIX-Padua.Results: Lower CA than OSA FIX activity for plasma samples from the phase 3 trial was observed (CA:OSA ratio: 0.408 [±0.049]-0.547 [±0.062]). Local OSA:central OSA FIX activity ratios were 0.789 (±0.314)-1.021 (±0.159). Local OSA:central OSA FIX activity ratios across methods and/or reagents were 0.81 (±0.02)-1.28 (±0.04) for rhFIX-wt-spiked samples and 0.67 (±0.02)-1.13 (±0.09) for rhFIX-Padua-spiked samples.Conclusion: FIX activity differences between central and local OSAs were modest; similar differences were observed in vitro with rhFIX-wt versus rhFIX-Padua. Commonly available OSAs can be used to monitor patients post-etranacogene dezaparvovec administration; we recommend using the same assay platform throughout the post-treatment period.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325303","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

TSUBASA Study: Evaluating Association of Physical Activity and Bleeding Events in People With Haemophilia A Without Factor VIII Inhibitors Receiving Emicizumab. TSUBASA研究：评估接受Emicizumab治疗的无因子VIII抑制剂的A型血友病患者体力活动与出血事件的关联

IF 3 2区医学

Haemophilia Pub Date : 2025-06-18 DOI: 10.1111/hae.70070

Kagehiro Amano, Teruhisa Fujii, Akihiro Sawada, Azusa Nagao, Chiai Nagae, Masanori Nojima, Nobuaki Suzuki, Mika Kawano, Tomomi Shimura, Yoshimasa Sugao, Naoto Hattori, Keiji Nogami

{"title":"TSUBASA Study: Evaluating Association of Physical Activity and Bleeding Events in People With Haemophilia A Without Factor VIII Inhibitors Receiving Emicizumab.","authors":"Kagehiro Amano, Teruhisa Fujii, Akihiro Sawada, Azusa Nagao, Chiai Nagae, Masanori Nojima, Nobuaki Suzuki, Mika Kawano, Tomomi Shimura, Yoshimasa Sugao, Naoto Hattori, Keiji Nogami","doi":"10.1111/hae.70070","DOIUrl":"https://doi.org/10.1111/hae.70070","url":null,"abstract":"Background: Emicizumab is approved for routine prophylaxis, but limited data exist investigating the relationship between bleeds and exercise in people with haemophilia A (PwHA) receiving emicizumab.Aim: To evaluate the relationship between physical activity and bleeding outcomes in Japanese PwHA receiving emicizumab prophylaxis.Methods: This prospective, multicentre, observational study was conducted in Japanese PwHA initiating emicizumab between November 2019 and October 2021. Physical activity and bleeding events were reported using an electronic patient-reported outcomes application, while activity intensity was collected by a wearable activity tracker worn over five 8-day monitoring periods. Data on safety were recorded by investigators using electronic case report forms. Quality of life data were also collected and will be reported in a separate publication.Results: Overall, 129 participants enrolled. Median age was 32 years (range 0-73), and 83.7% of participants had severe HA. Overall, 73 participants performed 968 exercise events, with 18.8% and 6.0% of events classified as moderate and high risk, respectively. Two (0.2%) exercise events were associated with bleeding: one basketball (moderate risk) and one fishing (low risk). In total, 137 adverse events (AEs) were reported in 62 participants. No serious AEs were emicizumab-related. The mean annualised treated bleed rate was 1.9 and 51 (39.5%) participants experienced zero bleeds during the study period (97 weeks).Conclusion: This study suggests that PwHA receiving emicizumab prophylaxis can participate in a wide range of physical activities with minimal bleeding risk, which supports their access to the health benefits of exercise. Emicizumab remains well tolerated.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325305","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

Women With Bleeding Disorders: Some Concerns Regarding Osteoporosis. 有出血性疾病的妇女：对骨质疏松症的一些关注。

IF 3 2区医学

Haemophilia Pub Date : 2025-06-09 DOI: 10.1111/hae.70071

Hortensia De la Corte-Rodriguez, Gianluigi Pasta, Carla Daffunchio, Emerito Carlos Rodriguez-Merchan

引用次数: 0

Hand and Foot Subungual Haematomas in Haemophilia: A Report of Six Cases. 血友病致手足掌下血肿6例报告。

IF 3 2区医学

Haemophilia Pub Date : 2025-06-02 DOI: 10.1111/hae.70059

Jessica Pearce, Luke Visscher, Natalie Karlovic, Brett Halliday, Jane Mason

{"title":"Hand and Foot Subungual Haematomas in Haemophilia: A Report of Six Cases.","authors":"Jessica Pearce, Luke Visscher, Natalie Karlovic, Brett Halliday, Jane Mason","doi":"10.1111/hae.70059","DOIUrl":"https://doi.org/10.1111/hae.70059","url":null,"abstract":"Aim: Subungual haematomas are a collection of blood underneath the nail subsequent to trauma. Whilst a commonly recognised injury in the general population, there is limited literature and no guidelines for management in haemophilia patients. This case series aims to provide insight into the clinical characteristics, management and sequelae of subungual haematomas in the haemophilia group.Methods: A retrospective case series was performed of patients with haemophilia presenting with subungual haematomas between July 2018 and June 2024, and the background literature reviewed. Data were collected from electronic medical records and analysis was purely descriptive given the small cohort included.Results: Six individual cases were identified with traumatic subungual haematomas. Five patients were male (83.3%), there was an event split between haemophilia A and B cases, with severity ranging from mild to moderate. One patient with mild haemophilia A also had concurrent type 1 von Willebrand disease. Most cases (83.3%) had a 48-72 h delay before hospital presentation. Five cases (83.3%) required either nail trephination or removal. Two moderate haemophilia B patients (33.3%), had recurrent bleeding within the first 2 weeks post injury.Conclusion: Haemophilia patients presenting with subungual haematomas should be considered for nail trephination or surgical intervention as per standard of care following factor replacement. Larger patient series may provide more insight into comparative outcomes in haemophilia patients versus the general population. Early collaboration between haematology and surgical teams is important. Inclusion of this site-specific bleed into patient education resources and haemophilia guidelines warrants consideration.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198944","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

Burden of Haemophilia A in South Korea: A Serial Cross-Sectional Study From 2008 to 2021. 韩国A型血友病负担：2008年至2021年的系列横断面研究

IF 3 2区医学

Haemophilia Pub Date : 2025-05-30 DOI: 10.1111/hae.70064

Sun-Hong Kwon, Ji Kyoung Park, Hee Jo Baek, Jin Hyun Nam, Serim Min, Ae-Ryeo Cho, Aeran Jung, Young-Shil Park

{"title":"Burden of Haemophilia A in South Korea: A Serial Cross-Sectional Study From 2008 to 2021.","authors":"Sun-Hong Kwon, Ji Kyoung Park, Hee Jo Baek, Jin Hyun Nam, Serim Min, Ae-Ryeo Cho, Aeran Jung, Young-Shil Park","doi":"10.1111/hae.70064","DOIUrl":"https://doi.org/10.1111/hae.70064","url":null,"abstract":"Background: Overall use of factor VIII (FVIII) and prophylactic use have increased in South Korea over the past decade. However, there are no nationwide outcome data demonstrating its impact. This study aimed to identify patients with haemophilia A (PwHA) and observe trends in joint-related outcomes and life-threatening haemorrhages using national claims data.Methods: This serial cross-sectional study analysed claims data from the Health Insurance and Review Assessment in South Korea. PwHA treated with FVIII at least twice between 2007 and 2022 were identified. We observed joint procedures, life-threatening haemorrhages and comorbidities between 2008 and 2021.Results: The number of identified PwHAs was 1193 in 2008 and 1517 in 2021. The proportion of older adult patients has increased over the past 14 years. The joint procedure rates per 1000 patients were 61.2 (95% CI 48.0‒76.9) in 2008 and 17.1 (11.2‒25.1) in 2021. The rate was highest in patients with a severe phenotype. Annually, less than 2% of patients experienced life-threatening haemorrhages, with approximately 90% of the cases attributed to central nervous system and gastrointestinal bleeding. The prevalence of hypertension and diabetes increased over the years (6% in 2008 and 15% in 2021, and 6% in 2008 and 9% in 2021, respectively).Conclusion: This study revealed previously unreported long-term trends in haemophilia-related outcomes and comorbidities in Korean PwHA. Although the number of older adult patients has increased, joint-related complications have decreased over time. The trends, observed over 14 years, provide valuable insights for enhancing the treatment of PwHA.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186867","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

Impact of Family History of Haemophilia on Diagnosis, Management and Outcomes in Severe Haemophilia. 血友病家族史对严重血友病诊断、治疗和预后的影响

IF 3 2区医学

Haemophilia Pub Date : 2025-05-30 DOI: 10.1111/hae.70018

Ana Mendoza, Isabel Rivas, Olga Benítez Hidalgo, Ana Rosa Cid, Martin Olivieri, Susanna Ranta, Veerle Labarque, Nadine G Andersson, Marloes de Kovel, María Teresa Álvarez-Román

{"title":"Impact of Family History of Haemophilia on Diagnosis, Management and Outcomes in Severe Haemophilia.","authors":"Ana Mendoza, Isabel Rivas, Olga Benítez Hidalgo, Ana Rosa Cid, Martin Olivieri, Susanna Ranta, Veerle Labarque, Nadine G Andersson, Marloes de Kovel, María Teresa Álvarez-Román","doi":"10.1111/hae.70018","DOIUrl":"https://doi.org/10.1111/hae.70018","url":null,"abstract":"Introduction: Patients with severe haemophilia A (HA) with no family history of haemophilia will be diagnosed upon their first bleeding event.Methods: Herein, we studied the effects of lack of family history in HA and the subsequent delay of diagnosis on bleeding pattern and early treatment, as well as on the risk of inhibitor development. For this purpose, data on 1237 severe HA patients with known family history (\"positive\" or \"negative\"), born between 2000 and 2022, were collected in 29 participating centres.Results: At diagnosis, 45.9% (554/1208) of patients had a positive family history of HA and 54.1% (654/1208) had a negative family history. A positive family history significantly shortened the time to diagnosis (8 months) and the treatment initiation (2 months). Prophylaxis was more frequently the first treatment in those with a positive family history compared to the negative family history group (21% vs. 13%). Bleeding was the main reason for first exposure day (ED) in both groups, but less frequently in the family history group than in those without a family history (67% vs. 80%). Positive family history was associated with fewer peak treatments at first five EDs (12% vs. 16%). In non-inhibitor patients, bleeding occurred earlier in those with positive family history (9.2 months vs. 10.6 months). The inhibitor incidence was similar in both groups (33% vs. 30%), and a positive family history was associated with earlier inhibitor development (13 months vs. 15 months).Conclusion: The majority of patients presented without a family history of HA which led to a delayed diagnosis and treatment initiation.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186935","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 Study on Factor V Deficiency in China: Clinical Characteristics, Genotype, and Treatment Approaches. 中国因子V缺乏的全国研究：临床特征、基因型和治疗方法。

IF 3 2区医学

Haemophilia Pub Date : 2025-05-27 DOI: 10.1111/hae.70066

Yu Yang, Lingling Chen, Lei Zhang, Feng Xue, Renchi Yang

{"title":"Nationwide Study on Factor V Deficiency in China: Clinical Characteristics, Genotype, and Treatment Approaches.","authors":"Yu Yang, Lingling Chen, Lei Zhang, Feng Xue, Renchi Yang","doi":"10.1111/hae.70066","DOIUrl":"https://doi.org/10.1111/hae.70066","url":null,"abstract":"Introduction: Congenital factor V (FV) deficiency is a rare bleeding disorder caused by recessive variants in the F5 gene.Aim: To investigate the phenotype and genotype of patients with congenital FV deficiency throughout China.Methods: Based on data from the Chinese National Haemophilia Registry, we analysed the clinical and genetic characteristics of 45 congenital FV deficiency patients.Results: The study cohort comprised 45 patients with confirmed FV:C reductions (undetectable to 48%), including six mild (FV:C >10%), 31 moderate (FV:C 1%-10%), and eight severe (FV:C <1%) patients. Of 39 patients with medical history, nine were asymptomatic. Major bleeding (Grade III) occurred in six patients with FV:C <10%. The most common symptoms included gingival (n = 15, 38.5%) and cutaneous bleeding (n = 13, 33.3%) in 39 patients. Menorrhagia (n = 7) was observed in 38.9% of 18 female patients of reproductive age. Gene sequencing identified 33 distinct variants in 20 patients, including 12 novel pathogenic/likely pathogenic variants and one novel variant of uncertain significance. Variants affecting the light chain (vs. heavy chain) were associated with lower FV:C (p = 0.002). Fresh frozen plasma served as the primary on-demand therapy, administered to 19 patients for active bleeding management and to two asymptomatic patients as preoperative prophylaxis.Conclusion: This study characterizes China's largest FV-deficient cohort, identifying 13 novel F5 variants. Light chain variants predicted severe coagulation disorder, while on-demand FFP achieved effective haemostasis. High prevalences of menorrhagia (38.9%) and ovarian cysts (22.2%) in reproductive-age females highlight urgent needs for gender-specific interventions and management of this rare disorder.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150292","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

Assay Discrepancy in Factor IX Activity in Haemophilia B and the Unique Assay Characteristics of FIX: p.Ala74Pro. 血友病B因子IX活性测定差异及FIX: p.a ala74pro的独特测定特性

IF 3 2区医学

Haemophilia Pub Date : 2025-05-27 DOI: 10.1111/hae.70069

Hiroshi Inaba, Satomi Nishikawa, Keiko Shinozawa, Fumie Nakazawa, Kagehiro Amano, Ei Kinai

引用次数: 0

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