Haemophilia最新文献

{"title":"EAHAD statement on the ISTH clinical practice guideline for treatment of congenital haemophilia A and B.","authors":"Pratima Chowdary, Maria Teresa Álvarez-Román, Fariba Baghaei, Robert Klamroth, Wolfgang Miesbach, Jan Blatny","doi":"10.1111/hae.15119","DOIUrl":"https://doi.org/10.1111/hae.15119","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142789451","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":"Giving Choice a Voice: Commentary on Development of the World Federation of Hemophilia Shared Decision-Making Tool","authors":"Leonard A. Valentino,&nbsp;Kate Khair","doi":"10.1111/hae.15133","DOIUrl":"10.1111/hae.15133","url":null,"abstract":"<p>The shared decision-making (SDM) tool developed by the World Federation of Hemophilia (WFH) provides a clear and concise overview of the process by which people with haemophilia (PwH) can collaborate with their healthcare professionals (HCPs) to engage and arrive at a therapeutic decision. This tool will be useful for all people with all bleeding disorders, not just PwH.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"5-6"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A","authors":"Shimin Yuan,&nbsp;Liang Hu,&nbsp;Juanfang Zhong,&nbsp;Xiao Hu,&nbsp;Xiaomeng Zhao,&nbsp;Zhenxing Wan,&nbsp;Sicong Zeng,&nbsp;Wen-Bin He,&nbsp;Feng Gu,&nbsp;Sheng-Peng Wang,&nbsp;Guangxiu Lu,&nbsp;Ge Lin,&nbsp;Juan Du","doi":"10.1111/hae.15140","DOIUrl":"10.1111/hae.15140","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Haemophilia A (HA) is a rare bleeding disorder caused by variants in F8. Although traditional mutational analyses have identified numerous pathogenic variants, the aetiology of HA in certain patients remains unclear. Furthermore, female patients with severe HA are rare.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To investigate the molecular defects underlying severe HA in two patients and provide personalised reproductive interventions for their families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two patients diagnosed with severe HA without other clinical phenotypes were enrolled in the study. A combination of whole-exome sequencing, real-time quantitative polymerase chain reaction and long-read sequencing (LR-sequencing) was performed to reveal the molecular defects of them, followed by the application of different reproductive intervention strategies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Proband 1, a 29-year-old man with FVIII activity of 0.8%, did not exhibit common F8 variants, including Inv1 or Inv22, in the coding region. However, he carried a rare maternal novel inversion on ChrX:154148973_154170321, spanning approximately 21.345 Kbp, with breakpoints in introns 13 and 14 of F8. Finally, the couple of Proband 1 opted for assisted reproductive technology using preimplantation genetic testing and successfully conceived. Proband 2, a 20-year-old female with severe HA and FVIII activity of 0.6%, carried inv22 of F8. Further investigation combining whole exome sequencing (WES) and pedigree analysis revealed that she carried a maternal cross-deletion encompassing exons 1–22 of F8, FUNDC2, BRCC3 and CLIC2, along with a de novo missense variant c.5852T&gt;C (p.Leu1951Ser) on her paternal X-chromosome. Chromosome X-inactivation (XCI) analysis demonstrated a highly skewed inactivation of the maternal X chromosome, with a ratio of 98:2. Subsequently, prenatal diagnosis confirmed that the third child in this family did not carry any of the F8 variants present in Proband 2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings provide novel insights into the genetic aetiology of HA and emphasise the importance of a definitive diagnosis in guiding genetic counselling and personalised reproductive interventions for affected individuals and their families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"148-155"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779987","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":"Assessing the factors affecting the accessibility of primary dental care for people with haemophilia","authors":"Kitti Sipos,&nbsp;Ildikó Márton,&nbsp;Marianna Móré,&nbsp;Attila Csaba Nagy,&nbsp;Csongor Kiss","doi":"10.1111/hae.15124","DOIUrl":"10.1111/hae.15124","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Introduction&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Patients with haemophilia (PWH) often have difficulty accessing dental services.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Aim&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To determine the accessibility of dental care for PWH and to examine their perceptions of how coronavirus type-2 (CoV-2) disease (COVID-19) has affected their ability to access dental treatments following the pandemic.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The questionnaire survey was conducted between July 2022 and December 2022 at haemophilia treatment centres in Hungary. Variables with statistical significance (Pearson's Chi-squared test; &lt;i&gt;p&lt;/i&gt; &lt; .05) were included in logistic regression analyses. Least absolute shrinkage and selection operator (LASSO) regression was used as a machine learning technique to identify the most predictive variables.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Twenty-one percent of the sixty-eight participants reported that they had been refused dental treatment, mainly in primary care (86%). Dental refusal was influenced by infectious disease (OR: 4.48, CI: 1.14–17.69) and previous dental bleeding complications (OR: 4.23, CI: 1.10–16.27). There was correlation between dental visits and having a permanent dentist or receiving oral hygiene advice (OR: 9.95, CI: 2.86–34.62 and OR: 3.84, CI: 1.09–13.58). Participation in an oral hygiene consultation increased patients’ satisfaction with their dental care (OR: 6.28, 95% CI: .71–55.88). Twenty-eight percent of patients had experienced difficulties since the start of the COVID-19, but 84% had visited their dentist at least once between 2021 and 2022 (&lt;i&gt;p&lt;/i&gt; = .002). Nevertheless, 16% of respondents went for only the most necessary treatments due to pandemic.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Refusal of dental care was high among participants, especially in primary care. The COVID-19 pandemic has exaggerated the difficulties of PWH in accessing dental treatment.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Highlights&lt;/h3&gt;\u0000 \u0000 &lt;div&gt;\u0000 &lt;ul&gt;\u0000 \u0000 &lt;li&gt;Patients with haemophilia (PWH) have difficulty accessing dental care, and the coronavirus type 2 (CoV-2) disease pandemic (COVID-19) has created a new barrier.&lt;/li&gt;\u0000 \u0000 &lt;li&gt;The study revealed a high prevalence of dental care refusal (21%), particularly in primary","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"69-77"},"PeriodicalIF":3.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review","authors":"Paul Saultier,&nbsp;Michel Grino,&nbsp;Céline Falaise,&nbsp;Sophie Voisin,&nbsp;Cécile Lavenu-Bombled,&nbsp;Manal Ibrahim-Kosta,&nbsp;Audrey Petit,&nbsp;Hélène Boutroux,&nbsp;Dominique Desprez,&nbsp;Mathieu Fiore,&nbsp;Roseline d'Oiron,&nbsp;Marie-Christine Alessi","doi":"10.1111/hae.15130","DOIUrl":"10.1111/hae.15130","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of anti-GPIIb/IIIa isoantibodies or anti-HLA antibodies (Ab) and platelet transfusion refractoriness. Recombinant activated factor VII (rFVIIa) has been proposed as an alternative treatment to platelet transfusion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed data from 77 case reports including 100 subjects to investigate the effectiveness and safety of rFVIIa in combination with platelets or antifibrinolytics for preventing or treating non-surgical bleeds, as well as surgical and obstetrical procedures in GT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The dosage of rFVIIa was consistent with previous recommendations (90 µg/kg per infusion). In subjects without Ab/refractoriness (<i>n</i> = 56), rFVIIa was effective in managing 93% of non-surgical bleeds (<i>n</i> = 42), 91% of minor (<i>n</i> = 11) and 92% of major (<i>n</i> = 26) surgical procedures and 89% of obstetrical procedures (<i>n</i> = 9). In subjects with Ab/refractoriness (<i>n</i> = 44), rFVIIa was effective in managing 90% of non-surgical bleeds (<i>n</i> = 39), and 75% of minor (<i>n</i> = 12) and 100% of major (<i>n</i> = 17) surgical procedures. The use of rFVIIa was safe, with 4 (2.7%) serious adverse events associated with rFVIIa.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Although the use of rFVIIa is currently restricted to subjects with Ab/refractoriness or when platelets are not available, our findings suggest expanding the indications for rFVIIa to encompass GT without Ab/refractoriness. Frontline use of rFVIIa may be proposed when clinically possible to mitigate the risks associated with platelet transfusion.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"7-15"},"PeriodicalIF":3.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of joint health in females with haemophilia: The carriers ultrasound project (CUP) study","authors":"Fernando F. Corrales-Medina,&nbsp;Kelli Fraga,&nbsp;Maria D'Almeida Bastos,&nbsp;Amina Rafique,&nbsp;Christine L. Kempton,&nbsp;Pooja Vijayvargia,&nbsp;Joanna A. Davis,&nbsp;Rachel S. Kronenfeld","doi":"10.1111/hae.15128","DOIUrl":"10.1111/hae.15128","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The needs of haemophilia carriers (HC) have been historically overlooked. It is now recognised that HC manifests bleeding symptoms, including haemarthrosis. The natural history of joint health in HC is not yet defined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>A multi-institutional cross-sectional study aimed to evaluate the characteristics of joint disease in HC, aged 18–40 years, compared to age-matched controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The carrier cohort included females with confirmed HC status. Controls had no personal or family history of bleeding disorders. All females with a history of joint trauma or surgery within 12 months or any history of joint replacement were excluded. Joint health was assessed by clinical history, Haemophilia Joint Health Score (HJHS) and point-of-care musculoskeletal ultrasonography (POC-MSKUS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty HC and 30 controls were enrolled. For HC, the median factor activity level was 52% (range 17%–100%). Carriers, regardless of baseline factor activity levels, reported higher prevalence of chronic joint pain (<i>p</i> &lt; .001) and swelling (<i>p</i> = .002) than controls. Heavy menstrual bleeding, epistaxis, gingival bleeding and easy bruising were also more prevalent in HC (<i>p</i> &lt; .001). Despite HC having a higher median HJHS score (5 vs. 0, <i>p</i> &lt; .001), no differences were observed when using POC-MSKUS. HC with a body mass index ≥25 mg/m² reported more haemarthrosis (<i>p</i> = .037).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>HC are at increased risk of joint-related symptoms and poorer joint health than age-matched controls. Dedicated follow-up to prevent and treat joint disease in HC is imperative. This study is also a call for additional investigation to clarify the association, or lack thereof, between factor activity and joint disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1422-1428"},"PeriodicalIF":3.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15128","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A core outcome set for prophylaxis and perioperative treatment of von Willebrand disease: The coreVWD initiative","authors":"Elizabeth Clearfield,&nbsp;Benjamin Kim,&nbsp;Sarah Ford,&nbsp;Nathan T. Connell,&nbsp;Maria E. Santaella,&nbsp;Michelle Lavin,&nbsp;Manon E. L. Degenaar-Dujardin,&nbsp;Emily Ayoub,&nbsp;Veronica H. Flood,&nbsp;Dawn Rotellini,&nbsp;Mark W. Skinner,&nbsp;Paula James,&nbsp;the coreVWD Panel","doi":"10.1111/hae.15122","DOIUrl":"10.1111/hae.15122","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Treatment options are expanding for von Willebrand disease (VWD). A core outcome set (COS)—a minimum set of agreed-upon outcomes to be used in every clinical trial for a given condition—provides guidance on which outcomes are most important to measure to ensure necessary data is collected for a variety of stakeholders and enable comparison across products and trials.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>coreVWD aimed to develop a COS for trials for prophylaxis and perioperative treatments for VWD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A modified Delphi consensus process was used to condense/prioritize a long list of potential outcomes. Over three Delphi rounds, a multi-stakeholder panel (patients, clinicians, pharmaceutical company representatives, HTA organizations, payer, and government organization representatives) rated each outcome from 1 (not important to include in a COS) to 9 (essential to include). Outcomes were eliminated or retained based on pre-determined criteria; a special provision to elevate patient priorities was included. An in-person consensus meeting was held after Delphi round 2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty-nine panellists participated. The final COS for prophylaxis treatment included 18 outcomes, seven of which are part of a special subset selected for women, girls and people with the potential to menstruate. There were 11 outcomes in the final perioperative branch COS. Six outcomes overlapped both COS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The coreVWD COS represents a consensus list of outcomes for clinical trials for both factor and non-factor VWD therapies. These outcomes will be useful across the lifecycle of a product, from clinical development through regulatory and market access phases and into patient-provider decision-making.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1357-1365"},"PeriodicalIF":3.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"UKHCDO gene therapy taskforce: Guidance for implementation of haemophilia gene therapy into routine clinical practice for adults","authors":"Pratima Chowdary,&nbsp;Beatriz Duran,&nbsp;Paul Batty,&nbsp;Gillian Lowe,&nbsp;April Jones,&nbsp;Debra Pollard,&nbsp;Sara Boyce,&nbsp;Jayashree Motwani,&nbsp;Bahareh Amirloo,&nbsp;Kathryn Musgrave,&nbsp;David Hopper,&nbsp;Stephen Classey,&nbsp;Sarah Whitaker,&nbsp;Nicola Dunn,&nbsp;Annette Bowyer,&nbsp;Susan Shapiro","doi":"10.1111/hae.15125","DOIUrl":"10.1111/hae.15125","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>2022 was a landmark year with two adeno-associated viral vectors (AAVs) receiving conditional marketing authorization from EMA for the treatment of persons with severe haemophilia A and severe to moderately severe haemophilia B and a third in 2024. Gene therapy is a transformative, irreversible treatment with long-lasting effects, necessitating development of new clinical pathways to ensure optimal outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To develop a consensus framework and service specification for delivery of AAV gene therapy for haemophilia in adults within the UK using the hub-and-spoke model proposed by the European Association of Haemophilia and Allied Disorders and the European Haemophilia Consortium.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The UK Haemophilia Centre Doctors Organisation (UKHCDO) set up a working party to develop expert consensus guidance, working with NHS England to ensure alignment with NHS England commissioning and the national service specification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>These guidelines detail the patient pathway, counselling and governance requirements for the hub-and-spoke model. The national service specification requires the hub site to manage governance for AAV-based gene therapy. Proposed regional and national multidisciplinary teams will harmonize clinical practices incorporating expertise from various specialities and professional groups. Key requirements identified include standardized documentation and multidisciplinary collaboration. Nationally agreed patient information and counselling checklists will streamline the informed consent process and facilitate data collection for long-term safety and efficacy monitoring.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These guidelines provide a structured framework for the delivery of liver-directed gene therapy. Whilst specific to the United Kingdom they provide a framework for the implementation of gene therapy in other countries for haemophilia and other monogenic disorders.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"26-38"},"PeriodicalIF":3.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11780224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of haemophilic joints in a low-resourced area using clinical tools: The effect of different types of prophylaxis","authors":"Ilham Youssry,&nbsp;Rania El-Taweel,&nbsp;Hadeel Seif,&nbsp;Rania Sami,&nbsp;Karim Okasha,&nbsp;Ebtehal Taha,&nbsp;Assad Haffar,&nbsp;Marwa Abd Elhady","doi":"10.1111/hae.15115","DOIUrl":"10.1111/hae.15115","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Haemophilic arthropathy (HA) is the most frequent complication in people with haemophilia (PWH). MRI is the gold standard to assess HA, however, there are limitations to its use in low-resourced areas.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p><b>Primary</b>; to compare clinical-functional, laboratory, and ultrasonographic joint scores with MRI scores to determine a reasonable alternative to MRI. <b>Secondary</b>; to identify the effect of various replacement therapies on the degree of joint involvement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Material and method</h3>\u0000 \u0000 <p>Fifty PWH with at least one affected joint, with or without inhibitors, and receiving either on-demand treatment or secondary prophylaxis, were included. All participants had a joint assessment by clinical HJHS 2.1, functional FISH, HEAD-US, and MRI DENVER scores. Also, serum COMP level was assessed by ELISA for the PWH and 50 healthy subjects as control.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The <b><span>HJHS</span> <span>2</span><span>.</span><span>1</span></b> scores had a significant positive correlation with HEAD-US and the MRI DENVER scores. The <b><span>FISH score</span></b> had a significant negative correlation with HJHS 2.1, HEAD-US, and MRI DENVER Scores. The <b><span>serum COMP</span></b> level was comparable between the PWH and the controls. The HEAD-<b><span>US score</span></b> had a significant positive correlation with the MRI score. All of the joints’ scores for the PWH on Emicizumab prophylaxis showed significantly lower HJHS 2.1 and MRI DENVER scores but higher FISH score than the joint scores of the patients receiving other types of prophylaxis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The clinical-functional joints assessment scores (HJHS 2.1, FISH) were objective tools that correlated significantly with the HEAD-US and the Denver MRI scores. Emicizumab prophylaxis led to better joint status.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1414-1421"},"PeriodicalIF":3.0,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142647516","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":"Challenges in the diagnosis and management of patients with rare coagulation disorders in Lebanon and consequences of a social and economic crisis","authors":"Roula Farah,&nbsp;Michel Boustany,&nbsp;Philippe Saad,&nbsp;Alessandro Casini,&nbsp;Philippe de Moerloose","doi":"10.1111/hae.15123","DOIUrl":"10.1111/hae.15123","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Rare coagulation disorders (RCDs) constitute an important health risk. Data on epidemiology, quality of life (QoL), access to care, and impact of the ongoing economic crisis on RCDs in Lebanon is limited.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>We aimed to address these gaps by evaluating effect of the crisis on the management of RCDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a retrospective chart review of RCD pediatric patients in a tertiary hospital between 2003 and 2023. Patients with deficiencies of fibrinogen, factor (F)II, FV, combined FV and FVIII, FVII, FXI, FXII, FXIII, and congenital deficiency of vitamin K-dependent factors (VKCFDs) underwent a qualitative assessment of the impact of the economic crisis on care and quality of life by an interview aimed at investigating obstacles to diagnosis, disparities in access to treatment, impact of the crisis on QoL and disease management, and opinion on governmental efforts to solve the health crisis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>46 patients were included. The response rate for the interview was 63%. Among the cohort, 21 (72.4%) reported difficulty accessing treatment since the start of the crisis and 18 (62%) reported “lack of healthcare coverage for necessary treatments” as the main issue. Most participants reported that the Lebanese government did not adequately address their needs during the crisis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study showcased that management of RCD patients in Lebanon has been severely affected by the economic crisis. Combined efforts by public and private sectors are needed to appropriately address this issue. Lessons can be learned from the Lebanese experience to appropriately screen for actionable factors in vulnerable populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"31 1","pages":"63-68"},"PeriodicalIF":3.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638661","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}