rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice 's Cover potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Haemophilia is an inherited bleeding disorder characterised by spontaneous bleeding, often leading to impaired health-related quality of life (HRQoL). Commonly used treatments include episodic and prophylactic treatment regimens. Gene therapies could soon become available, potentially creating a paradigm shift in patient management.</p></sec><sec><title style='display:none'>Aim</title><p>This paper proposes hypotheses about the potential impact of gene therapy on HRQoL domains in haemophilia, and how these impacts might differ compared with existing treatments.</p></sec><sec><title style='display:none'>Methods</title><p>An expert working group with 10 individuals experienced in haemophilia and HRQoL research was established to discuss potential impacts of gene therapy on HRQoL in general and for specific domains in haemophilia. As part of a one-day workshop, domains of three widely used patient-reported outcome (PRO) instruments were explored: the Haemo-QoL-A, the Patient Reported Outcomes, Burden and Experiences (PROBE), and the Haemophilia Activities List (HAL).</p></sec><sec><title style='display:none'>Results</title><p>The group expected a greater improvement in HRQoL from gene therapy compared with existing treatments for the following domains: physical/role functioning, worry, and consequences of bleeding (Haemo-QoL-A); haemophilia-related health and EQ-5D-5L (part of the PROBE); leg and arm function, and leisure activities (HAL). In contrast, the experts suggested that no change or potential deterioration might be observed for the emotional impact (HAL) and treatment concerns (Haemo-QoL-A) domains.</p></sec><sec><title style='display:none'>Conclusions</title><p>Current PRO instruments in haemophilia have limitations when applied in the context of gene therapy, and no single instrument fully captures the relevant HRQoL domains. However, the PROBE and Haemo-QoL-A were considered as the most suitable existing instruments. As haemophilia treatments evolve, further research should examine the potential effectiveness of existing PRO instruments as compared to the development of novel PRO measures.</p></sec></abstract>ARTICLE2021-05-30T00:00:00.000+00:00Web-based Application for the Population Pharmacokinetic Service (WAPPS)'s impact on dosage selection: a single paediatric centre experience<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Current treatment for severe haemophilia includes prophylactic factor replacement to prevent bleeding. Coagulation factor products have significant inter-patient variability in pharmacokinetic (PK) parameters. Optimal management requires tailoring prophylaxis to individual PK parameters. Web-based Application for the Population Pharmacokinetic Service (WAPPS) is a tool that estimates individual PK values using a population approach. Despite its growing use to help guide dosing selection, few studies have investigated its clinical impact.</p></sec><sec><title style='display:none'>Aim</title><p>To investigate any change in prophylaxis regimen and hours per week where factor level is under 1%, pre- and post-PK testing using WAPPS, for paediatric patients with severe haemophilia.</p></sec><sec><title style='display:none'>Methods</title><p>A retrospective chart review was conducted for all paediatric patients with severe haemophilia receiving care between April 2013 and July 2018 at McMaster Children's Hospital who have used WAPPS. Data extracted included: patient demographics, PK data generated by WAPPS, prophylaxis regimen pre- and post-PK testing, and reason for regimen change. The number of hours per week where factor level was under 1% pre- and post-PK testing was calculated using WAPPS.</p></sec><sec><title style='display:none'>Results</title><p>Thirty-one patients were included; 42% (n=13) changed their prophylaxis regimen after PK testing. After using PK data to personalise prophylaxis recommendations, there was a decrease in the number of hours per week where factor level is under 1% (from an average of 13.1 hours/week to 11.8 hours/week), though not statistically significant (p=0.16).</p></sec><sec><title style='display:none'>Conclusion</title><p>PK data generated by WAPPS has direct impact by informing changes to prophylaxis recommendations. This individualised approach promotes patient-centred care and patient engagement without increasing the time spent with factor levels below 1%. It also confirms and validates clinical practice.</p></sec></abstract>ARTICLE2021-07-13T00:00:00.000+00:00A descriptive study of United States bleeding disorders camps<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Disease-specific camps present one means of helping children overcome the challenges associated with chronic conditions and improving clinical and psychosocial outcomes. For more than 50 years, bleeding disorders camps (BDCs) in the United States (US) have been promoting independence, self-care, and leadership skills in children with bleeding disorders, all while fostering camaraderie in a secure and safe environment. However, little is known about how BDCs are organised, administered, funded, staffed, or how staff are compensated.</p></sec><sec><title style='display:none'>Aim</title><p>This article aims to describe the attributes of BDCs that service the US bleeding disorders community, and to compare and contrast these attributes to identify gaps in the BDC system and areas for improvement.</p></sec><sec><title style='display:none'>Methods</title><p>The National Hemophilia Foundation (NHF), in collaboration with several members of its Nursing Working Group and Physical Therapy Working Group, developed a survey that was distributed to BDC administrators (CAs) and health care providers (HCPs).</p></sec><sec><title style='display:none'>Results</title><p>A total of 101 HCPs and 20 CAs completed the survey. Findings indicated that BDCs are an informal extension of both the HTCs and NHF chapters, reaffirming that camps play a crucial role in the overall care of bleeding disorders. In general, diminishing financial resources threaten the existence of BDCs. Although there are BDC guidelines for formal staff training and specific interventions delivered to camp participants, adherence is variable. Other gaps included minimal self-infusion education follow-up with no documentation on effect or benefit of infusion education provided at camp.</p></sec><sec><title style='display:none'>Conclusion</title><p>Addressing the gaps identified by this survey and documenting resultant data supporting the value of BDCs will facilitate their continued sustainability in light of increasingly limited funding.</p></sec></abstract>ARTICLE2021-03-03T00:00:00.000+00:00Case report of nasal pseudotumor – a rare presentation in severe haemophilia A with high titre inhibitors<abstract><title style='display:none'>Abstract</title><p>Haemophilia patients with inhibitors suffer from increased morbidity and mortality due to the ineffectiveness of factor VIII replacement. Pseudotumors are rare but dangerous complications in these patients, and nasal pseudotumors are even rarer. Here, we present the case of a young child with severe haemophilia A with high titre inhibitors who developed a nasal pseudotumor. When immune tolerance therapy was not possible due to financial constraints, he was treated with FEIBA prophylaxis and rituximab. The pseudotumor was managed with surgical excision. We conclude that epistaxis in haemophiliacs can be due to an underlying nasal pseudotumor, and highlight the use of rituximab for the eradication of inhibitors.</p></abstract>ARTICLE2021-03-03T00:00:00.000+00:00The impact of heavy periods on women with a bleeding disorder<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Women with a bleeding disorder (WBD), including those diagnosed as a carrier, often have heavy periods associated with prolonged bleeding and pain. This survey sought to describe the impact of this substantial burden on daily living and the personal cost of managing heavy periods.</p></sec><sec><title style='display:none'>Methods</title><p>An online survey was promoted to women who identify as having a bleeding disorder via the social media of The Haemophilia Society in January and February 2020. The survey included 20 questions about personal data, symptoms and the practicalities of living with a bleeding disorder.</p></sec><sec><title style='display:none'>Results</title><p>A total of 181 responses were received, of which 151 were complete questionnaires. Of these, 58% of respondents were aged 18–45 and 136 identified as having a bleeding disorder, mostly haemophilia or von Willebrand disease. Thirteen (10%) had been diagnosed as a haemophilia carrier and a further four women were probable carriers. Prolonged or painful periods were reported by the majority of respondents; the median duration of bleeding was 7 days (range 2–42). Thirty-six per cent took time off work or study as a result and 42% reported a negative impact on social life. Eighteen women (13%) reported having to use a combination of sanitary protection products to manage their bleeding. Women diagnosed as a carrier reported morbidity comparable with that of women with a diagnosed bleeding disorder and reported greater use of combinations of sanitary protection.</p></sec><sec><title style='display:none'>Conclusion</title><p>WBD experience a high prevalence of heavy bleeding and prolonged, painful periods despite using appropriate symptomatic treatment. The impact of heavy periods on women diagnosed as a being a carrier is comparable with that experienced by women with a diagnosed bleeding disorder, but as they are not always clinically recognised they may lack access to care and support.</p></sec></abstract>ARTICLE2021-05-02T00:00:00.000+00:00Red Flag Study: An observational cross-sectional survey looking at bleeding in patients with a bleeding disorder who are lost to follow-up<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Regular follow-up visits and routine care is important for people with a mild bleeding disorder in terms of lowering their risk of complications from untreated bleeds and helping them maintain a healthy lifestyle. However, follow-up visits among this population can sometimes be missed for unclear reasons.</p></sec><sec><title style='display:none'>Aim</title><p>The present study aimed to question if lost-to-follow-up patients with a bleeding disorder experience unreported but important bleeding events that are not communicated to their haemophilia treatment centre (HTC) and if they could benefit from more frequent clinic visits.</p></sec><sec><title style='display:none'>Methods</title><p>A multicentre paper-based cross-sectional survey was sent to people diagnosed with an inherited blood disorder and lost to follow-up for two years or more. Those who met the eligibility criteria received the survey by mail and completed and returned it to their HTC between October 2015 and July 2016.</p></sec><sec><title style='display:none'>Results</title><p>Invitation packages were sent to 71 individuals; 14 questionnaires returned, with a survey response rate of 19.7%. Of the 14 returned surveys, only 11 participants were eligible who either responded completely or partially to the survey. Quality of life was reported as almost never or never a problem by all but one participant, who limited activities due to bleeding problems. Spontaneous nosebleeds were sometimes, often or always a problem for three participants; one female participant reported issues associated with heavy menstrual bleeding as often or almost always a problem.</p></sec><sec><title style='display:none'>Conclusion</title><p>We concluded that although the mean annual bleeding self-reported events were relatively low, they cannot be underestimated when keeping in mind the limitations and challenges of accessing data among this population. Our study highlighted the importance of educating this group of patients on their bleeding disorder and engaging them in their own care and health status, which may result in improving their health-related quality of life and overall health outcomes.</p></sec></abstract>ARTICLE2021-05-30T00:00:00.000+00:00Personalising haemophilia management with shared decision making<abstract><title style='display:none'>Abstract</title><p>The current standard of care for treating people with haemophilia (PWH) in the developed world is prophylaxis with regular infusions of clotting factor concentrates. Gene therapy is being investigated as a new treatment paradigm for haemophilia and if approved would potentially eliminate the need for chronic, burdensome infusions. In recent years, shared decision making (SDM) has become increasingly common in patient care settings. SDM is a stepwise process that relies on reciprocal information sharing between the practitioner and patient, resulting in health care decisions stemming from the informed preferences of both parties. SDM represents a departure from the traditional, paternalistic clinical model where the practitioner drives the treatment decision and the patient passively defers to this decision. As the potential introduction of gene therapy in haemophilia may transform the current standard of care, and impact disease management and goals in unique ways, both practitioners and PWH may find their knowledge tested when considering the appropriate use of a novel technology. Therefore, it is incumbent upon haemophilia practitioners to foster an open, trusting, and supportive relationship with their patients, while PWH and their caregivers must be knowledgeable and feel empowered to participate in the decision making process to achieve truly shared treatment decisions.</p></abstract>ARTICLE2021-06-18T00:00:00.000+00:00Dental extraction in congenital factor Vll deficiency with inhibitor – a case report<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Hereditary factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance, and FVII deficiency with an inhibitor is extremely rare. There is sparse information in the literature on the management of tooth extraction in patients with FVII deficiency and an inhibitor.</p></sec><sec><title style='display:none'>Case description</title><p>We report the case of a five-year-old child with FVII deficiency and an inhibitor who underwent dental extraction. The child had had multiple bleeding episodes including intracranial haemorrhage and had a history of severe allergic reaction to the infusion of recombinant FVII. The tooth was extracted using lignocaine gel and the antifibrinolytic agent oral tranexamic acid.</p></sec><sec><title style='display:none'>Conclusion</title><p>The extraction of a deciduous tooth in a patient with FVII deficiency and an inhibitor was undertaken without bleeding complications. There are currently no guidelines regarding management of this type of case. Further studies and evidence are required so that management can be standardised.</p></sec></abstract>ARTICLE2021-05-30T00:00:00.000+00:00The patient gene therapy journey: Findings from qualitative interviews with trial participants at one UK haemophilia centre<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Gene therapy for haemophilia is in late-stage clinical development and has the potential to become a therapeutic option in clinical practice.</p></sec><sec><title style='display:none'>Aims</title><p>To enhance the understanding of the perspectives of people with haemophilia around gene therapy, and to highlight their concerns about and motivations for having gene therapy.</p></sec><sec><title style='display:none'>Method</title><p>Structured, qualitative interviews were conducted and recorded with six people who had received an investigational gene therapy product. The recordings were transcribed and thematically analysed.</p></sec><sec><title style='display:none'>Results</title><p>Most of those interviewed were under the age of 40, and the mean time out from their gene therapy infusion was 10 months. Adverse events were the main concerns pre-infusion, and impact on quality of life was the main motivating factor for choosing to go ahead. Pre-infusion, the treating centre and the health care professionals working there were the main source of information regarding gene therapy; only two participants looked elsewhere for information to support their decision. None of the respondents expressed concerns about the infusion day itself, and all found the infusion to be simple or uneventful. Post-infusion, four found the frequency of follow-up appointments difficult, with time and travel the main issues.</p></sec><sec><title style='display:none'>Conclusion</title><p>Although participants' perspectives on gene therapy were generally positive, there remains a need for education and support. Nurses will play an important role in the delivery of gene therapy for haemophilia, but all staff within the haemophilia treatment centre should be armed with the knowledge and confidence to answer questions about gene therapy.</p></sec></abstract>ARTICLE2021-05-02T00:00:00.000+00:00Outcome of a combined physiotherapy and podiatry haemophilia clinic: patient perceptions and the effect on ankle bleeds and joint health<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>The ankle joint is the most common site of bleeding for people with haemophilia (PWH) in the developed world. Recent surveys suggest that PWH do not always have access to non-surgical musculoskeletal interventions and that when provided; there is considerable heterogeneity in clinical practice.</p></sec><sec><title style='display:none'>Aims</title><p>To determine patient perceptions and the potential benefits of a new combined multidisciplinary physiotherapy-podiatry haemophilia clinic, and to observe the effect on frequency of bleeds and ankle joint Haemophilia Joint Health Scores (HJHS).</p></sec><sec><title style='display:none'>Materials and methods</title><p>PWH with a history of ankle bleeds, pain, foot and/or ankle deformities from a single UK haemophilia centre were referred to the clinic from December 2017 to December 2018. Pre- and post-intervention ankle joint HJHS data and ankle annualised joint bleed rate (AJBR) were collected together with a satisfaction questionnaire asking patients their views on the clinic's value, usefulness and their satisfaction after the initial appointment.</p></sec><sec><title style='display:none'>Results</title><p>Twenty-seven PWH (16 children and 11 adults) attended the clinic. All patients agreed or strongly agreed that they were satisfied with the new clinic. The combined multidisciplinary nature of the clinic meant that patients only needed to attend one appointment with the expertise of two professionals, rather than attending two separate appointments. All patients reported it “more useful to see the physiotherapist and podiatrist together”. There were no statistically significant differences in ankle AJBR or HJHS scores post-intervention compared to pre-intervention.</p></sec><sec><title style='display:none'>Conclusion</title><p>Establishing a multidisciplinary physiotherapy-podiatry clinic for PWH with a history of ankle bleeds, pain, foot and/or ankle deformities appears to increase patient satisfaction. We did not observe a significant change in ankle AJBR or ankle HJHS scores, suggesting they might not be sufficient to evaluate potential benefits to patients. A larger study incorporating validated tools, focusing on patient-reported foot function, pain, activity and quality of life is needed to confirm if there is any effect of a combined physiotherapy-podiatry intervention on ankle joint AJBR and function.</p></sec></abstract>ARTICLE2020-06-08T00:00:00.000+00:00Switching factor products: nurses’ experience with NovoEight<abstract><title style='display:none'>Abstract</title><p>Haemophilia nurses in the UK are instrumental in supporting people with haemophilia in self-management, including managing treatment options, recording treatment use and understanding the budgetary impact of prescribing practice. The widespread use of prophylaxis identified haemophilia as a high cost disorder to treat, resulting in a financially successful national tendering process with increased scrutiny of clotting factor use at both individual and haemophilia treatment centre level. The UK tenders, undertaken at a national level every three years, have ensured access to current and new therapies at the most cost-effective price through economies of scale in committing to purchase large volumes from suppliers.</p><p>In the 2018 tendering round, NovoEight® (NovoNordisk) was added to the prescribing list and other recombinant factors were withdrawn, resulting in changes in prescribing for individual people with haemophilia. This ‘switching’ process is not uncommon in the UK, where national tenders have been in place since 2004. However, the unseen additional workload for nurses, driven by the demands of timely switching to meet product volumes and contracts, has never been captured. During the 2018 switch we interviewed 11 nurses and one operational manager from haemophilia centres across the UK to identify the barriers and facilitators to instigating this change.</p><p>Ultimately the switching was completed in a timely manner, demonstrating significant cost reductions for factor concentrates. The unseen workload of the nurse – identifying which patients should have their product switched, discussion with and education of patients/families, adjusting prescriptions for home delivery of clotting factor concentrates and stock management and control to avoid waste, and organising the necessary additional clinic visits – was identified and costed based on salary per hour. Nurses remained positive that they were able to undertake this additional role but recognised that, with no specific national guidance regarding product choice, there may have inevitably been differences in approach between treatment centres.</p></abstract>ARTICLE2020-06-17T00:00:00.000+00:00Knowledge, attitude and practice of health care providers toward prescribing factor replacement at federally funded haemophilia treatment centres in the United States<abstract><title style='display:none'>Abstract</title><p>Factor replacement is currently the standard of care to prevent or treat bleeding episodes in haemophilia patients. This study examined current prescribing practices of factor therapy for patients at haemophilia treatment centres (HTCs) in the United States.</p><sec><title style='display:none'>Aims</title><p>The aims were to evaluate the driving forces for prescribing factor products, to evaluate current attitudes and knowledge toward factor product and industry, and to discuss the implications for health care providers in practice.</p></sec><sec><title style='display:none'>Methods</title><p>An anonymous electronic survey was distributed to 744 HTC health care providers (HCPs); 118 responses were analysed.</p></sec><sec><title style='display:none'>Results</title><p>The most common driving force for HCPs to change a patient's factor product was poor response to current therapy, while the most common perception of patients’ motivation to switch products was the potential for fewer infusions. HCPs with strong influence over the prescribed therapy identified inadequate pharmacokinetic (PK) studies as an important driving force; patients/caregivers perceived as having a strong influence over which therapy is prescribed selected less frequent dosing as an important motivator. HCPs who allow patients/caregivers to have a strong influence over which factor is prescribed were more likely to cite patient/caregiver request as a significant driving force for change in therapy.</p></sec><sec><title style='display:none'>Conclusion</title><p>The haemophilia treatment landscape continues to evolve and is becoming increasingly complex. The multitude of treatment options available now offer choices, presenting a need to focus on patient-centric prophylaxis.</p></sec></abstract>ARTICLE2020-10-17T00:00:00.000+00:00Predictors of treatment adherence in patients with chronic disease using the Multidimensional Adherence Model: unique considerations for patients with haemophilia<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Adherence to treatment recommendations in patients with chronic disease is complex and is influenced by numerous factors. Haemophilia is a chronic disease with reported levels of adherence ranging from 17–82%.</p></sec><sec><title style='display:none'>Aim</title><p>Based on the theoretical foundation of the World Health Organization Multidimensional Adherence Model, the objective of this study was to identify the best combination of the variables infusion frequency, annualised bleed rate, age, distance to haemophilia treatment centre (HTC) and Haemophilia Joint Health Score (HJHS), to predict adherence to treatment recommendations in patients with haemophilia A and B on home infusion prophylaxis in Canada.</p></sec><sec><title style='display:none'>Methods</title><p>A one-year retrospective cohort study investigated adherence to treatment recommendations using two measures: 1) subjective report via home infusion diaries, and 2) objective report of inventory ordered from Canadian Blood Services. Stepwise regression was performed for both measures.</p></sec><sec><title style='display:none'>Results</title><p>Eighty-seven patients with haemophilia A and B, median age 21 years, were included. Adherence for both measures was 81% and 93% respectively. The sample consisted largely of patients performing an infusion frequency of every other day (34%). Median scores on the HJHS was 10.5; annualised bleed rate was two. Distance to the HTC was 51km. Analysis of the objective measure weakly supported greater infusion frequency as a treatment-related factor for the prediction of lower adherence, however the strength of this relationship was not clinically relevant (R2=0.048). For the subjective measure, none of the explanatory variables were significant.</p></sec><sec><title style='display:none'>Conclusion</title><p>Adherence is a multifaceted construct. Despite the use of theory, most of the variance in adherence to treatment recommendations in this sample of patients with haemophilia remains unknown. Further research on other potential predictors of adherence, and possible variables and relationships within factors of the MAM is required.</p></sec></abstract>ARTICLE2020-07-25T00:00:00.000+00:00Clinical profile of children with haemophilia at the University Hospital of Brazzaville<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Haemophilia is a rare hereditary haemorrhagic disease caused by coagulation factor VIII (haemophilia A) or IX (haemophilia B) deficiency. Very few data exist on this disease in Congo. This survey aims to describe the epidemiological and clinical aspects of the children affected.</p></sec><sec><title style='display:none'>Materials and methods</title><p>A descriptive cross-sectional study was carried out in the haematology department of the Brazzaville University Hospital over a period of two years. Children (under 18 years of age) with haemophilia and with a factor VIII or IX level less than or equal to 30% were identified. The parameters analysed included age, diagnostic delay, type and severity of haemophilia, type and frequency of bleeding manifestations, complications and history of transfusion.</p></sec><sec><title style='display:none'>Results</title><p>Nineteen patients were identified with an average age at diagnosis of four years. The average time to diagnosis was six years, and the most frequent first known bleeding episode was haemorrhage during circumcision. Family history was found in 14 cases. There were 13 cases of haemophilia A and six cases of haemophilia B. Fourteen cases were severe haemophilia; no mild cases were identified. Haemorrhagic manifestations included haemarthrosis, haematomas and mucocutaneous haemorrhages. The average number of haemorrhagic episodes per year was 12. Haemophilic arthropathy was present at diagnosis in seven cases, with the main location being the knee. The average number of hospitalisations before diagnosis was two. Sixteen patients had been transfused at least once.</p></sec><sec><title style='display:none'>Conclusion</title><p>Although circumcision is the most frequent first known haemorrhagic manifestation of haemophilia in Congo, patients are often diagnosed late, sometimes with severe osteoarticular complications. Further measures are needed to help ensure early diagnosis and improve care.</p></sec></abstract>ARTICLE2020-06-17T00:00:00.000+00:00A multi-country snapshot study of pain in people with haemophilia<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>People with haemophilia (PwH) experience recurrent bleeds in weight-bearing joints. Optimal management for people with severe haemophilia involves prophylaxis with factor VIII or IX, which helps to reduce the risk of bleeds and joint damage. However, this is expensive and frequently not an option in economically developing countries, where on-demand treatment is more commonly used as bleeding occurs. PwH with moderate and mild haemophilia are also treated on demand. Pain from bleeds and arthropathy is common in PwH; it is recognised as a burden that impairs quality of life and can be challenging to manage.</p></sec><sec><title style='display:none'>Aims</title><p>This study aims to establish greater understanding of the experience of pain in PwH in different countries, the factors that influence this, and how pain is currently managed.</p></sec><sec><title style='display:none'>Methods</title><p>PwH attending haemophilia treatment centres (HTCs) completed an anonymous questionnaire about their experience of pain and pain-relief within the previous 28 days (up to 10 PwH per participating HTC).</p></sec><sec><title style='display:none'>Results</title><p>209 PwH from 20 HTCs in 11 countries participated in the study. The median age was 36 (range 8–84); 181 (86.6%) had haemophilia A, 25 (12.0%) haemophilia B, and three (1.4%) did not know; 148 (70.8%) had severe haemophilia, 28 (13.4%) moderate, and 31 (14.8%) mild. Twenty-eight (13.4%) had an inhibitor. The majority (n=121; 57.9%) were on prophylaxis; 61 (29.2%) were treated on demand; 20 (9.6%) used a combination; 7 (3.3%) did not know. 154 PwH (73.9%) experienced a total of 1,945 days of pain with severity on a visual analogue scale reported as 4.5. The most commonly reported sites of pain were joints and muscles. There was no significant difference in pain incidence between countries. Children aged less than 16 years reported the lowest amount of pain, with reported pain increasing with age in older respondents. Simple analgesia such as paracetamol was used but participants reported that it did not relieve pain. Alternative pain-relief strategies including rest, physiotherapy, walking aids, alcohol or marijuana were also used with varying effect.</p></sec><sec><title style='display:none'>Conclusions</title><p>Pain is common among PwH and increases with age. Age and developmentally appropriate pain assessment should be a part of routine haemophilia care.</p></sec></abstract>ARTICLE2020-12-17T00:00:00.000+00:00Improvement in school absence after factor replacement in students with haemophilia in Upper Assam, India<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Patients with haemophilia who are not adequately treated experience a lifetime burden of joint complications and loss of functional ability due to repeated bleeding episodes caused by low levels of clotting factor VIII or IX in the blood. These complications can significantly impact day-to-day life, including active participation in school and academic study in children with haemophilia (CwH). Treatment with factor replacement therapy can help to prevent this, but access to factor has been challenging in low-resource settings such as Northeast India. This study shows the impact of factor replacement therapy on bleeding episodes, joint complications and school absence among CwH in this setting.</p></sec><sec><title style='display:none'>Methods</title><p>A retrospective observational study was undertaken to examine the impact of receiving regular factor replacement therapy (prophylaxis or on demand) on school absences among CwH registered with the haemophilia treatment centre at Assam Medical College and Hospital. Annual bleed rate (ABR), Haemophilia Joint Health Score (HJHS) and Functional Independence Score in Haemophilia (FISH) were also assessed.</p></sec><sec><title style='display:none'>Results</title><p>Thirty-eight CwH were eligible for the study; 26 (68.4%) were on prophylaxis therapy and 12 (31.5%) received on-demand therapy. In the year before starting regular treatment, the mean ABR was 37.8 (+20.0), HJHS was 31.1 (+18.1) and mean FISH score was 21.1 (+4.2). At the end of the study period the mean (+SD) ABR in prophylactic therapy was significantly lower at 5.8 (+4.6) (p&lt;0.001) and the HJHS was significantly lower at 4.7 (+4.6). FISH score significantly improved to 27.9 (+3.3) (p&lt;0.001). Prophylaxis showed better (but not significant) results in comparison to on-demand therapy.</p></sec><sec><title style='display:none'>Conclusions</title><p>Treatment with factor replacement significantly reduces school absence in CwH and correlates strongly with joint health and functional improvement, with the effect slightly better with prophylaxis than on-demand therapy. Low dose prophylaxis is a good treatment option in low-resource settings, but improvements are also needed in rates of diagnosis.</p></sec></abstract>ARTICLE2020-11-19T00:00:00.000+00:00Improving haemophilia diagnosis in developing countries: the Malian experience<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Around 90% of all undiagnosed people with haemophilia (PWH) live in developing countries. In Mali, in sub-Saharan Africa, nearly 90% of potential PWH are not identified. We initiated a two-year study involving an integrated programme of training and awareness-raising with the aim of improving diagnosis and access to care for PWH, based on partnership with those who regularly interact with them.</p></sec><sec><title style='display:none'>Methodology</title><p>Our training programme focused on four regions of Mali and the district of Bamako, and included three types of health professionals from different districts and hospitals: medical doctor, nurse and laboratory technician. We also targeted traditional healers, who continue to be strongly involved in local healthcare, and provided training sessions for patients and their families on the symptoms, diagnosis, treatment and complications of haemophilia. A complementary programme of awareness-raising, including the national media, ran alongside the training sessions.</p></sec><sec><title style='display:none'>Results</title><p>Overall, the programme involved 495 participants: 213 health care professionals, 24 patients, 79 parents of patients, 126 traditional healers, and 53 media workers. A direct result was development of collaboration between these groups in identifying haemophilia, and the transfer of four patients from a traditional healer's office to hospital for diagnosis and treatment. The number of diagnosed PWH increased from 42 in 2016 to 126 in 2017.</p></sec><sec><title style='display:none'>Conclusion</title><p>The integrated haemophilia educational programme, which took into account the nature of the local environment and involved all relevant stakeholders, showed that taking a collaborative approach is a successful strategy for improving diagnosis and care for PWH in Mali. This approach could be relevant in other developing countries.</p></sec></abstract>ARTICLE2020-06-08T00:00:00.000+00:00Professional education among haemophilia nurses: a survey of current practices<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background:</title><p>Guidance from the European Association for Haemophilia and Allied Disorders (EAHAD) sets out the educational milestones haemophilia nurses should aim to achieve. However, little is known about the resources nurses use for education and current awareness.</p></sec><sec><title style='display:none'>Aims:</title><p>To assess the current educational level of haemophilia nurses, how and where they access ongoing education, where they feel they need extra support, and how best this teaching could be delivered.</p></sec><sec><title style='display:none'>Methods:</title><p>Haemophilia nurses in the Haemnet Horizons group devised and piloted a questionnaire. This was distributed in hard copy to nurses attending the 2019 EAHAD Congress and promoted as an online survey hosted by Survey Monkey.</p></sec><sec><title style='display:none'>Results:</title><p>Seventy-five replies were received from nurses in Europe (46 in the UK), and two from nurses in Chile and the Philippines. Most described their role as ‘specialist nurse’, with the majority having worked in haemophilia care for up to ten years. Half had a nursing degree and one quarter had a nursing diploma. Three quarters had attended at least one course specifically related to haemophilia nursing. Almost all used academic sources, study days and the websites of health profession organisations as information sources. Most also used Google or Wikipedia, but fewer used Twitter. Patient association websites were more popular among non-UK nurses. About half attended sponsored professional meetings and three quarters reported that educational meetings were available in their workplace. A clear majority preferred interactive and face-to-face activities using patient-focused content.</p></sec><sec><title style='display:none'>Conclusions:</title><p>The study shows that nurses, predominantly in Western Europe, access a range of educational resources, most of which are ‘traditional’. Use of online sources is high, but social media are less popular than Google or Wikipedia. Further research is needed to explore the potential of new media for haemophilia nurse education, and whether the current educational levels and needs highlighted in the survey remains the same across the whole of Europe.</p></sec></abstract>ARTICLE2020-05-06T00:00:00.000+00:00“He's a normal kid now”: an ethnographic study of challenges and possibilities in a new era of haemophilia care<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Recent treatment option advances in haemophilia care have contributed to a discourse of ‘normality’ around the condition, in which people with haemophilia (PwH) are increasingly expected to live ‘normal’ lives unburdened by their condition.</p></sec><sec><title style='display:none'>Aim</title><p>The aim of this article is to explore notions of ‘normality’ in the experience of haemophilia across generations. This is one of the main themes identified in a large-scale ethnographic study of the everyday life of PwH, a broad qualitative investigation of beliefs and experiences related to condition, treatment, and personal ways of managing the condition.</p></sec><sec><title style='display:none'>Methods</title><p>The study used ethnographic research methods. Five haemophilia experts helped frame the research design by contributing historical and disease area context prior to the initiation of field research. PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). During field research, study researchers collected data through 8–12 hours of participant observation, semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of PwH interactions with friends, family, and health care professionals (HCPs). They also conducted on-site observation at haemophilia treatment centres (HTCs) and HCP interviews. The study employed a multi-tiered grounded theory approach and combined data were analysed using techniques such as inductive and deductive analysis, cross-case analysis, challenges mapping, and clustering exercises. This article explores findings related to the discourse of ‘normality’ and is thus focused on a subset of the data from the study.</p></sec><sec><title style='display:none'>Results</title><p>Fifty-one PwH, aged 1.5 to 82 years, were interviewed and followed in their daily lives. Six treatment centres were visited, and 18 HCPs were interviewed. The study found that a discourse of present day ‘normality’, as compared to a difficult past, is ingrained in the haemophilia community. As a result, unlike most older PwH (40+), younger PwH (under 18) are not always taught to acknowledge the severity of their condition or how to sense bleeds (disease-related embodied knowledge), and risk unknowingly doing long-term damage to their bodies. Twenty-seven per cent (n=7/26) of younger PwH (children, teenagers) in the study were observed or described as engaging in high-risk behaviours in the short term indicating a lack understanding of long-term consequences.</p></sec><sec><title style='display:none'>Conclusions</title><p>These findings suggest that the discourse of ‘normality’ presents a number of challenges that need to be addressed, namely the potential for younger PwH to be unaware of bleeds and the general underreporting of haemophilia-related complications and limitations. One way forward in realising the full potential of advanced treatment could be to teach young PwH, through evidence-based initiatives, how to develop an embodied sense of their bleeds. Furthermore, if the current state of life with haemophilia is accepted as finally ‘normal’, then progress in further improving care may be stalled. It is important that remaining and new challenges are recognised in order for them to be acted upon.</p></sec></abstract>ARTICLE2020-12-17T00:00:00.000+00:00Fiona’s FVII footprint<abstract><title style='display:none'>Abstract</title><p>Factor VII deficiency is a rare inheritable bleeding disorder that can be challenging to manage. Blood activity levels do not correlate with bleeding risk, and prophylaxis is a more difficult treatment option than for people with haemophilia due to the short half-life of factor VII. Acute bleeding manifestations and long-term complications are similar to those associated with haemophilia. This case study illustrates the psychological and physical impact of severe factor VII deficiency on a woman with impaired mobility due to haemarthropathy who must retain her independence to provide care for her elderly parents. She self-manages her joint pain and bleeding risk, but her life is limited by the need to avoid injury and her reluctance to engage fully with health services.</p></abstract>ARTICLE2020-05-06T00:00:00.000+00:00en-us-1