Haemophilia最新文献

The UK Infected Blood Inquiry: A Personal Reflection.

IF 3 2区医学

Haemophilia Pub Date : 2025-04-02 DOI: 10.1111/hae.70043

Christine A Lee

{"title":"The UK Infected Blood Inquiry: A Personal Reflection.","authors":"Christine A Lee","doi":"10.1111/hae.70043","DOIUrl":"https://doi.org/10.1111/hae.70043","url":null,"abstract":"The UK Infected Blood Inquiry (IBI) considered the transfusion transmitted infections hepatitis B and C, HIV, and vCJD. The inquiry lasted 6 years during 2018 to 2024 and reported to the UK parliament on 20 May, 2024. It concluded that at least 3000 people died because of the recklessness and obstinacy of officialdom and it has been reported that victims may be compensated an estimated £12 bn-£14 bn ($16 bn-$18 bn). This personal reflection considers people with the bleeding disorder haemophilia, who were infected with blood products. The longevity of both the understanding of the infections, as well as the long natural history of the infections themselves, is set in the context of the medicine practiced by physicians with whom the author was taught and practiced over a period of 40 years. These physicians used blood products to advance the care and life expectancy of patients whilst the ill understood and unforeseen side effects of treatment were slowly elucidated: their contributions were severely criticised but their evidence could not be presented through ill health or death. It is recommended that 'no-fault compensation' schemes should be provided, especially in the era of new and sometimes irreversible therapies, and evidence-based medicine is protected.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772152","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

Trends in Treatment of Severe Haemophilia and Impact on Inhibitor Assessment by the EUHASS Registry.

IF 3 2区医学

Haemophilia Pub Date : 2025-04-02 DOI: 10.1111/hae.70039

Kathelijn Fischer, Riitta Lassila, Flora Peyvandi, Alex Gatt, Samantha C Gouw, Rob Hollingsworth, Thierry Lambert, Radoslaw Kaczmarek, Diana Carbonero, Michael Makris

{"title":"Trends in Treatment of Severe Haemophilia and Impact on Inhibitor Assessment by the EUHASS Registry.","authors":"Kathelijn Fischer, Riitta Lassila, Flora Peyvandi, Alex Gatt, Samantha C Gouw, Rob Hollingsworth, Thierry Lambert, Radoslaw Kaczmarek, Diana Carbonero, Michael Makris","doi":"10.1111/hae.70039","DOIUrl":"https://doi.org/10.1111/hae.70039","url":null,"abstract":"Background: The last 15 years have seen new extended half-life (EHL) recombinant FVIII/IX concentrates and nonreplacement therapy for haemophilia A (emicizumab) introduced in Europe. These changes affect FVIII/IX exposure in previously untreated patients (PUPs) and previously treated patients (PTPs) with severe haemophilia A and B (SHA and SHB) and may modify inhibitor development and/or detection.Aim: To report trends in treatment for severe haemophilia and concomitant changes in inhibitor incidence.Methods: Between 2008 and 2022, 97 centres reported inhibitor development against FVIII/IX concentrates to the European Haemophilia Safety Surveillance System (EUHASS). Inhibitors were reported quarterly, and PUPs without inhibitor development annually. Cumulative inhibitor incidences (95% confidence intervals [CI]) were calculated for PUPs and incidence rates/1000 years (CI) for PTPs.Results: By 2022, SHA-PUPs (n = 1574) received emicizumab (44%), SHL-rFVIII (21.5%), pdFVIII (17.5%) and EHL-rFVIII (17%). SHB-PUPs (n = 236) received EHL-rFIX (79%) and SHL-rFIX (21%). SHA-PTPs (68,772 years) received EHL-rFVIII (31%), SHL-rFVIII (28%), emicizumab (25%), and pdFVIII (15%). SHB PTPs (11,185 years) received EHL-rFIX (69%), pdFIX (15%) and SHL-rFIX (15%). Observed Inhibitor incidence in SHA-PUPs decreased from 24% before 2016 to 6% in 2022 (p < 0.001), and potentially in SHB-PUPs too (from 9% to 3%; p = 0.066), but remained stable in SHA/SHB PTPs.Conclusion: In 2022, 44% of SHA-PUPs and 25% of SHA-PTPs received emicizumab prophylaxis. Concomitantly, observed inhibitor incidence reduced to 6% in SHA-PUPs. In SHB, EHL-rFIX treatment increased to 79% in SHB-PUPs and 69% in SHB-PTPs. Assessing inhibitor incidence for new concentrates is likely to be hampered by novel treatments causing delayed exposure to FVIII/FIX.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772158","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

Management of Major Orthopaedic Surgery in a Patient With the Rare Thrombomodulin c.1611C>a Mutation: A Case of an Uncommon Bleeding Disorder.

IF 3 2区医学

Haemophilia Pub Date : 2025-04-02 DOI: 10.1111/hae.70042

Béatrice Ferrey, Imène Mecheti, Rafik Jaouahdou, Olivier Pierre Louis, Serge Pierre Louis, Yesim Dargaud

引用次数: 0

Multimodal Exercise Program of Balance and Strength Improves Dynamic Balance, Strength and Functionality and Decreases the Risk of Falls in Adults With Haemophilia.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-28 DOI: 10.1111/hae.70040

Ana Chimeno-Hernández, Sofía Pérez-Alenda, Carlos Cruz-Montecinos, Juan J Carrasco, Marta Aguilar-Rodriguez

{"title":"Multimodal Exercise Program of Balance and Strength Improves Dynamic Balance, Strength and Functionality and Decreases the Risk of Falls in Adults With Haemophilia.","authors":"Ana Chimeno-Hernández, Sofía Pérez-Alenda, Carlos Cruz-Montecinos, Juan J Carrasco, Marta Aguilar-Rodriguez","doi":"10.1111/hae.70040","DOIUrl":"https://doi.org/10.1111/hae.70040","url":null,"abstract":"Introduction: Haemophilia is a hereditary bleeding disorder that leads to joint damage and musculoskeletal impairments, affects balance and increases the risk of falls. Although exercise is beneficial, little is known about the clinical effects of programmes that focus on balance and proprioception in people with haemophilia (PwH). The aim of this study is to evaluate the effectiveness of a 12-week multimodal balance and strength training programme (MBSTP) on balance, fall risk, strength, functionality, kinesiophobia and quality of life (QoL) in adult PwH.Methods: A single-blind non-randomized controlled trial was conducted with 22 PwH (mean age 34.5 ± 9.2 years). Participants were assigned to an experimental group (EG, n = 11), who underwent the MBSTP, or a control group (CG, n = 11), who continued their usual exercises. Static and dynamic, fall risk, strength and functionality (Time Up and Go, Sit to Stand Test and 2-Minute Walk Test), kinesiophobia and QoL were assessed pre- and post-intervention, Additionally, the participants' satisfaction with the programme was measured. Intervention effects were determined with a two-way mixed ANOVA.Results: The EG presented significant improvements (p < 0.05, with a small to large effect size) in balance (bipodal open eyes in unstable surface and monopodal total-velocity, LoS and subjective perception of balance), functionality, fall risk and strength (quadriceps and gluteus medius) compared to the CG. The EG reported high satisfaction with the programme.Conclusion: Given the significant improvements in dynamic balance, lower limb strength, functionality and fall risk reduction, integrating supervised multimodal exercise programmes into routine rehabilitation for PwH could enhance mobility and prevent falls.Trial registration: ClinicalTrials.gov identifier: NCT04122014.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735720","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

Alternative Immunosuppression in Acquired Haemophilia A.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-28 DOI: 10.1111/hae.70022

Jayna Mistry, Gillian Lowe, Will Lester, Charles Percy

引用次数: 0

Clinical and Economic Burden of Patients with Haemophilia A and B in France: Analysis of a Nationwide Claims Database.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-28 DOI: 10.1111/hae.70041

Laurent Frenzel, Stéphane Bouée, Hervé Lilliu, Véronique Cahoreau, Nicolas Giraud, Stéphanie Delienne, Francis Fagnani, Juliette Cottin, Isabelle Bureau, Anaïs Reynaud, Yasmine Fahfouhi, Amélie Coumert, Maud Beillat, Nadir Mammar, Jérémie Rudant, Aurélien Lebreton

{"title":"Clinical and Economic Burden of Patients with Haemophilia A and B in France: Analysis of a Nationwide Claims Database.","authors":"Laurent Frenzel, Stéphane Bouée, Hervé Lilliu, Véronique Cahoreau, Nicolas Giraud, Stéphanie Delienne, Francis Fagnani, Juliette Cottin, Isabelle Bureau, Anaïs Reynaud, Yasmine Fahfouhi, Amélie Coumert, Maud Beillat, Nadir Mammar, Jérémie Rudant, Aurélien Lebreton","doi":"10.1111/hae.70041","DOIUrl":"https://doi.org/10.1111/hae.70041","url":null,"abstract":"Introduction: There are few data on healthcare resource use and related costs of French haemophilia A (HA) and B (HB) patients.Aims: This study aimed to describe the profile of HA and HB patients, current disease management, clinical burden and costs.Methods: Data related to haemophilia patients of all ages alive on 1/1/2022 were extracted from the nationwide French claims database (SNDS). Patients were divided into four treatment groups: on-demand or prophylaxis with or without inhibitors. Haemophilia patients were compared with a control group (ratio 1:3) matched for age, gender and region using risk ratios (RR [95% confidence interval]). The annual direct health care costs per person were estimated.Results: A total of 5,577 (HA) and 1,332 (HB) patients were included (mean age: 36.4 years). Most patients were treated on-demand (HA: 72.8%; HB: 76.6%) and a few had inhibitors (HA: 3.6%; HB: 1.1%). Overall, haemophilia clinical burden was significantly higher than among controls, in particular, mortality (RR:1.42 [1.04-1.92]), work disability (RR: 2.71 [2.22-3.30]), hospitalisation for major bleeding (RR:12.06 [8.67-16.80]), orthopaedic surgery (RR: 2.97 [2.65-3.32]) and hospitalisation all causes (RR: 2.44 [2.31-2.58]). This burden was more important in patients with inhibitors or treated in prophylaxis and was close for HA and HB patients. The annual per-person costs were €282,560 and €181,566 for HA and HB in prophylaxis without inhibitors, respectively. The population with inhibitors, although limited, had even much higher costs.Conclusion: The clinical burden and costs of haemophilia treatments may be very high especially in patients in prophylaxis and/or with inhibitors.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735715","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

Subjective Physical Performance and Its Determinants in Patients With Haemophilia.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-28 DOI: 10.1111/hae.70037

Alexander Schmidt, Fabian Tomschi, Pia Möllers, Marius Brühl, Sylvia von Mackensen, Andreas C Strauss, Heinrich Richter, Johannes Oldenburg, Thomas Hilberg

{"title":"Subjective Physical Performance and Its Determinants in Patients With Haemophilia.","authors":"Alexander Schmidt, Fabian Tomschi, Pia Möllers, Marius Brühl, Sylvia von Mackensen, Andreas C Strauss, Heinrich Richter, Johannes Oldenburg, Thomas Hilberg","doi":"10.1111/hae.70037","DOIUrl":"https://doi.org/10.1111/hae.70037","url":null,"abstract":"Introduction: Physical functioning is compromised in patients with haemophilia (PwH). However, factors negatively influencing subjective physical performance (SPP) remain underexplored. Hence, this study aimed to compare the SPP of PwH with healthy controls (CON), to differentiate them based on disease-specific, person-related, and arthropathy-related parameters, and to identify overarching determinants influencing SPP.Methods: SPP was assessed in 301 PwH and 263 CON via the HEP-Test-Q, which divides SPP into a total score and four distinct dimensions (e.g., mobility). Additionally, disease-specific (i.e., type, severity, treatment regime, HIV, hepatitis), person-related (i.e., age, BMI), and arthropathy-related parameters (i.e., current pain intensity (NRS-now) and average pain intensity across 4 weeks (NRS-4w) and the HJHS) were examined, and associations with SPP were calculated.Results: All PwH and PwH subgroups demonstrated significantly greater impairment across all SPP dimensions compared to CON. Apart from the type of haemophilia (A vs. B, p = 0.894), significant differences in total SPP were observed among PwH subgroups for severity (severe vs. non-severe, p = 0.012), treatment (prophylaxis vs. on demand, p = 0.002), HIV (no vs. yes), and hepatitis (no vs. yes, both p < 0.001). A multiple linear regression model further revealed significant predictive effects for HJHS (p < 0.001) and NRS-4w (p < 0.001) on the total SPP score.Conclusion: PwH perceived their physical performance as significantly worse across all dimensions compared to CON. The decreased SPP in PwH can be attributed primarily to arthropathy-related factors, that is, an impaired joint status and persistent pain. To oppose the decline in SPP, tailored sports-therapeutic programs should be integrated into the multimodal treatment concept.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735725","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

Congenital Factor XIII Deficiency in Taiwan: A Novel F13A1 p.Lys113* Variant Identified in a Patient With an Inhibitor and Our Experience to Induce Immune Tolerance.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-23 DOI: 10.1111/hae.70029

Hsuan-Yu Lin, Shih-Chung Wang, Chia-Yu Sung, Po-Te Lin, Han-Ni Hsieh, Ying-Chih Huang, Ming-Ching Shen

引用次数: 0

Acute Compartment Syndrome in Congenital and Acquired Haemophilia.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-23 DOI: 10.1111/hae.70036

Emerito Carlos Rodriguez-Merchan, Binoy Yohannan, Miguel A Escobar

{"title":"Acute Compartment Syndrome in Congenital and Acquired Haemophilia.","authors":"Emerito Carlos Rodriguez-Merchan, Binoy Yohannan, Miguel A Escobar","doi":"10.1111/hae.70036","DOIUrl":"https://doi.org/10.1111/hae.70036","url":null,"abstract":"Background: Acute compartment syndrome (ACS) is a surgical emergency defined as an increase in intramuscular pressure within a compartment that compromises capillary perfusion and threatens the survival of compartment tissues. A sustained increase in compartment pressure causes irreversible necrosis of nerves and muscles, leading to permanent damage.Purpose: To conduct a narrative review of the literature on the diagnosis and treatment of ACS in persons with congenital and acquired haemophilia (PwH) METHODS: An English-language literature search for articles published before 28 February 2024 was performed in PubMed (MEDLINE) and the Cochrane Library using \"haemophilia and compartment syndrome\" as keywords.Results: We found 77 articles in PubMed (of which 19 were eliminated as not strictly related to the topic) and 1 in the Cochrane Library (which was repeated in PubMed). In total, there are 83 published cases (61 of congenital haemophilia and 22 of acquired haemophilia).Conclusions: Misdiagnosis or failure to perform early haematological treatment in PwH suffering from ACS, followed by extensive fasciotomy if haematological treatment does not stop the problem, may result in permanent disability of the affected limb. The prognosis will depend on the intensity and duration of the compartment pressure elevation. For PwH, adequate clotting factor replacement should be the first step of treatment, as it may be effective in some cases of ACS. In general, factor levels of 50%-100% should be maintained in the perioperative period; thereafter, the dose can be gradually reduced to maintain levels at 50% for approximately 2 weeks or longer if necessary.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691858","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

Blood Group O Does Not Increase the Risk of Inhibitors in Severe Haemophilia A: Data from the PedNet Study Group.

IF 3 2区医学

Haemophilia Pub Date : 2025-03-23 DOI: 10.1111/hae.70035

Marloes de Kovel, Aimée-Claire van Haaster, Manuel Carcao, Susanna Ranta, Heidi Glosli, Georges E Rivard, Gili Kenet, Karin Kurnik, Christel Van Geet, Manuela Carvalho, Nadine G Andersson, Mutlu Kartal-Kaess, Rolf Ljung, H Marijke van den Berg

{"title":"Blood Group O Does Not Increase the Risk of Inhibitors in Severe Haemophilia A: Data from the PedNet Study Group.","authors":"Marloes de Kovel, Aimée-Claire van Haaster, Manuel Carcao, Susanna Ranta, Heidi Glosli, Georges E Rivard, Gili Kenet, Karin Kurnik, Christel Van Geet, Manuela Carvalho, Nadine G Andersson, Mutlu Kartal-Kaess, Rolf Ljung, H Marijke van den Berg","doi":"10.1111/hae.70035","DOIUrl":"https://doi.org/10.1111/hae.70035","url":null,"abstract":"Introduction: Inhibitor development against factor VIII (FVIII) is the most common complication of hemophilia A replacement therapy. One of the variables considered to influence inhibitor development is the ABO blood group. Patients with blood group O have, on average, a 30%-40% lower endogenous von Willebrand factor (VWF) concentration. It has been postulated that VWF levels influence inhibitor development. The objective of this study was to investigate the inhibitor risk in patients with severe hemophilia A comparing those with blood group O with those with non-O blood groups.Methods: The study population consisted of children with severe hemophilia A, born between 2000 and 2020, who reached 50 FVIII exposure days in the PedNet registry. Inhibitors were considered to be clinically relevant when at least two consecutive measurements were tested positive.Results: Routine testing of blood groups varied between centres: Out of 1172 patients with severe hemophilia A, blood group status was known in 759 patients (65.8%). The relative risk of inhibitor development for blood group O in comparison to non-O was 1.04 (95% CI: 0.7-1.7).Conclusion: In the PedNet cohort, blood group O did not increase the risk of inhibitors in previously untreated children with severe hemophilia A.Trial registration: PedNet Registry; clinicaltrials.gov identifier: NCT02979119.","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691861","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