Haemophilia : the Official Journal of the World Federation of Hemophilia

INTRODUCTION: In the past HIV infection was a common complication of haemophilia therapy. Gene therapy trials in Haemophilia patients using rAAV have shown promising results; Unfortunately, the majority of gene therapy trials studies have excluded HIV positive patients. We decided to systematically review the published clinical trials using rAAV for HIV prevention. METHODS: A comprehensive literature search was performed to identify studies evaluating clinical trials using rAAV for HIV...

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INTRODUCTION: Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express extra-haematological clinical phenotypes. AIM: To analyse the genotype/phenotype correlations in two unrelated boys with severe early childhood obesity (SCO), global developmental delay (GDD) and similar bleeding phenotype associated with comparable Xq27 deletions spanning the entire F9 and proximate genes, and characterise the pathogenic events estimating the most likely mutational mechanism involved...

INTRODUCTION: People with haemophilia rely on specialists for their care, yet the specific dosing regimens of treatments prescribed by these specialists have not been widely studied. AIM: The objective of this study is to describe trends in clinician prescribing practices for the management of haemophilia in the United States (US). METHODS: We administered surveys to members of the Hemostasis and Thrombosis Research Society via paper surveys at its in-person annual symposia in 1999 and 2015, and an online survey in 2021...

INTRODUCTION: On-demand treatment is the most common treatment strategy for haemophilia A in China. AIM: This study aims to evaluate the efficacy and safety of a human-derived B-domain-deleted recombinant factor VIII (TQG202) in the on-demand treatment of bleeding episodes in moderate/severe haemophilia A patients. METHODS: This multicentre, single-arm clinical trial enrolled moderate/severe haemophilia patients previously treated with FVIII concentrates for ≥50 exposure days (EDs) from May 2017 to October 2019...

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INTRODUCTION: Physical activity (PA) is influenced by numerous factors, and the literature describing why people with haemophilia (PWH) are physically active or not is inconclusive. AIMS: To investigate factors associated with PA (mean min/day in light (LPA), moderate (MPA), vigorous (VPA) and total PA, and proportion meeting World Health Organization (WHO) weekly moderate-to-vigorous (MVPA) recommendations) among young PWH A. METHODS: Forty PWH A on prophylaxis from the HemFitbit study were included...

AIM: To conduct a cross-sectional follow-up assessment of physical activity (PA) in people with moderate and severe haemophilia (PwMSH) from the Irish Personalised Approach to the Treatment of Haemophilia (iPATH) study. METHODS: Between June-December 2021, participants' PA was measured over one week using accelerometery, and was compared with their previously measured data from the original iPATH assessment. Self-awareness of PA and the impact of the Covid-19 pandemic on PA, pain, mobility and function were retrospectively examined using a survey...

BACKGROUND: The assessment of clinical history is crucial before referring a patient for further laboratory testing. Bleeding assessment tools (BAT) are developed to standardize clinical evaluation. A small number of patients with congenital fibrinogen deficiencies (CFDs) have been evaluated with these tools without definitive results. AIMS: We compared the adequacy of the ISTH-BAT and the European network of rare bleeding disorders bleeding score system (EN-RBD-BSS) to identify patients with CFDs...

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INTRODUCTION: Adequate prophylactic treatment and physical activity improve joint health and clinical outcomes for people with haemophilia A (HA). However, non-clinical joint-related burden of moderate (MHA) and severe (SHA) HA has not been well characterised. AIM: To quantify the joint health-related humanistic and economic burden of MHA and SHA in Europe. METHODS: A retrospective analysis of the cross-sectional CHESS population studies using a patient-centric measure of joint health (problem joints, PJs: chronic joint pain and/or limited range of movement due to compromised joint integrity with or without persistent bleeding) was conducted...

INTRODUCTION AND AIM: The ankle joint is the most common site for haemophilic arthropathy. The aim of this study was to review the outcomes of ankle joint fusion in patients with haemophilia A or B. The primary outcome measures were union rates, time to union, perioperative blood loss/transfusion, postoperative complications and length of hospital stay (LOS). Secondary outcome measures were hind foot functional outcome scores and the visual analogue pain scale (VAS). MATERIALS AND METHODS: A search of PubMed, Medline, Embase, [email protected] and the Cochrane register was performed conforming to the PRISMA guidelines...

BACKGROUND: Qualitative studies have explored why people with haemophilia (PwH) might consider or forgo gene therapy, the impact it has had on those who have received it, and what support might be needed throughout the process. No studies have yet examined what withdrawal prior to transfection might mean for PwH and their families. AIMS: To understand the experiences of PwH and their families of withdrawal from gene therapy and to understand what support mechanisms might be required...

INTRODUCTION: Von Willebrand Disease (VWD) is the most common inherited bleeding disorder. However, recognition of the disease by both the public and healthcare professionals lags behind that of other bleeding disorders, leading to delays in diagnosis and treatment for patients. Updated national guidelines are needed to highlight an appropriate pathway for managing VWD patients in a timelier manner. AIM: To identify ways in which care for VWD can be achieved on a more equitable basis...

INTRODUCTION: Predicting the risk of sports injuries and sports-induced bleeds (SIBs) in people with haemophilia (PWH) may support clinical counselling. AIM: To assess the association between motor proficiency testing and sports injuries and SIBs and to identify a specific set of tests for predicting injury risk in PWH. METHODS: In a single centre, prospective study male PWH aged 6-49 playing sports ≥1x/week were tested for running speed and agility, balance, strength and endurance...

INTRODUCTION: Haemophilia is the most common severe congenital bleeding disorder and can significantly influence patients' quality of life. The health-related quality of life (HRQoL) is a multi-dimensional concept that assess effect of different aspects of health status, including physical, mental, and social domains. Identification of the factors affecting the HRQoL of Persons with Haemophilia (PWH) can guide health care system to better management of patients. AIM: The aim of the present study is to evaluate HRQoL in PWH in Afghanistan...

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INTRODUCTION: The UK National Haemophilia Database (NHD) collects data from all UK persons with haemophilia A with inhibitors (PwHA-I). It is well-placed to investigate patient selection, clinical outcomes, drug safety and other issues not addressed in clinical trials of emicizumab. AIMS: To determine safety, bleeding outcomes and early effects on joint health of emicizumab prophylaxis in a large, unselected cohort using national registry and patient reported Haemtrack (HT) data between 01 January 2018 and 30 September 2021...

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INTRODUCTION: The Ilizarov technique has the potential to be an attractive option for severe knee flexion contracture (KFC) patients with a high risk of bleeding. However, studies on this technique in the management of haemophilic KFC are scarce. AIM: The purpose of this study was to review and analyse the results of the Ilizarov technique in correcting haemophilic KFC and to evaluate the safety and efficacy of this technique. METHODS: Twelve male haemophilia patients with severe KFC who underwent distraction treatment using the Ilizarov technique from June 2013 to April 2019 were included in this study...