rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice 's Cover use of rIX-FP in patients with haemophilia B: a nurse's perspective<abstract> <title style='display:none'>Abstract</title> <p>The management of patients with haemophilia is complex and requires lifelong care to be delivered by a specialist multidisciplinary team. Haemophilia B results from a deficiency or absence in coagulation factor IX (FIX), leading to easy bruising, and musculoskeletal and internal bleeding. For patients with severe or moderate haemophilia B, prophylaxis with standard half-life (SHL) coagulation FIX products requires frequent intravenous administration, which may negatively impact treatment adherence and increase burden of care. A recombinant fusion protein linking recombinant FIX (rFIX) with recombinant human albumin, rIX-FP, has an extended half-life compared with SHL rFIX, and has demonstrated a favourable safety and efficacy profile for the prevention and treatment of bleeding episodes in phase III and real-world studies of patients with severe haemophilia B. rIX-FP enables treatment to be tailored to the needs of individual patients, with dosing flexibility allowing selected patients to be treated with prophylaxis dosing intervals of 7, 10, 14 or 21 days. Patients switching to rIX-FP can reduce their annualised bleeding rate and some have successfully reduced their prophylactic dosing frequency while maintaining low bleeding rates and consistent factor consumption. This may ultimately minimise the occurrence of haemophilic arthropathy and improve patient quality of life. Educating patients and caregivers on the sustained use of rIX-FP prophylaxis is essential. The lifelong support and guidance provided by healthcare professionals at haemophilia treatment centres (HTCs) are critical for providing an optimal treatment approach that can increase adherence to treatment. This article reviews the pharmacokinetics, efficacy, and safety of rIX-FP demonstrated in clinical trials and clinical practice, and discusses haemophilia nurses’ clinical experiences with rIX-FP in patients in their HTCs.</p> </abstract>ARTICLE2021-08-18T00:00:00.000+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 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+00:00Case 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+00:00Seeing the bigger picture: Qualitative research in the Zoom age<abstract> <title style='display:none'>Abstract</title> <p>Participants in clinical trials for new haemophilia treatments are routinely asked to complete quality of life (QoL) questionnaires using validated and disease-specific instruments. Yet too often in clinical research we know very little about the life stories of individuals, making it difficult to know how they have been affected by a new therapy and what exactly has changed for the better – or for the worse. In my own research, I wanted to understand the differences that new treatments are really making to people's everyday lives. While traditional QoL instruments can be helpful, using a qualitative approach that involves speaking directly with people with haemophilia (PwH) and their family members has enabled me find out what has really been going on their lives, including impacts on the wider family. The Covid pandemic and the need to maintain social distancing changed the way in which my research has been carried out, but in fact provided an opportunity to see an even bigger picture. I believe that using videoconferencing platforms to conduct interviews and focus groups has both allowed me to see more of the world in which the participants live and has enabled participants to be more relaxed and open in their conversations, resulting in a potentially richer dataset. While this approach to qualitative QoL research should not replace interviews and focus groups, the use of videoconferencing should be considered as another methodology researchers can and should use to enable them to glean the richest data possible. Qualitative interviews offer an important complementary addition to the validated QoL measures used in clinical trials, enabling us to hear more about where improvements have occurred, where further improvements can be made, and the real-life impact of a new treatment for PwH and their families.</p> </abstract>ARTICLE2021-12-30T00:00:00.000+00:00Telemedicine in haemophilia during COVID-19 and beyond: a comprehensive review<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title> <p>Patients with haemophilia require regular assessments and physical examinations. The COVID-19 pandemic has resulted in the rapid adoption of telemedicine to enable virtual consultations and reduce hospital visits. However, the process of virtual consultations is new to many haemophilia clinics. A better understanding of best practices in telemedicine is important to ensure optimal quality of care for patients with haemophilia.</p> </sec> <sec><title style='display:none'>Objectives</title> <p>To summarise the current literature on the use of direct-to-consumer telemedicine for patients with haemophilia and to describe the effectiveness and potential limitations of the technology and methods used.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A comprehensive search was conducted in MEDLINE and EMBASE databases using terms referring to the concepts “haemophilia” AND “telemedicine” and their synonyms. There were no time or language restrictions. Title, abstracts, and full texts were screened. Included articles involved telemedicine interventions to facilitate clinical services directly between patients and providers without the use of third-party personnel. The primary outcome was the satisfaction of providers and patients. Secondary outcomes included economic considerations and clinical outcomes. Information was extracted based on study-specific, patient-specific, intervention-specific, and outcome-specific data.</p> </sec> <sec><title style='display:none'>Results</title> <p>Of the 925 articles screened, six were identified and summarised. Three described telemedicine within the context of COVID-19. Technologies used included telephone calls, videoconferencing, text messaging, and email. All studies involved a multidisciplinary team. Telemedicine in haemophilia care was found to positively impact the patient experience. Providers were satisfied with telemedicine. It was also suggested to be economically beneficial and positively impacted patient outcomes. However, none of the articles reported on how telemedicine was specifically used to perform assessments during the virtual consultation process.</p> </sec> <sec><title style='display:none'>Conclusions</title> <p>There is preliminary evidence that telemedicine may be beneficial in haemophilia care. Overall, patients and providers reported high satisfaction with the usage of direct-to-consumer telemedicine. This positive reception warrants improvements in standardisation of reporting and quality of study design to better assess its clinical and economic impact. Developing a standard guideline for virtual consultations would support healthcare practitioners in how to best incorporate telemedicine to improve quality of care.</p> </sec> </abstract>ARTICLE2021-10-14T00:00:00.000+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+00:00Bone mineral density in Canadian children with severe haemophilia A or B: a cross-sectional study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Previous research has shown that bone mineral density (BMD), a measure of bone strength, may be lower among people with haemophilia. However, the majority of this research has been done in adults and in countries where the treatment for haemophilia differs from the standard of care in Canada, and there is a lack of paediatric data.</p> </sec> <sec><title style='display:none'>Aims</title> <p>The primary objective of this study was to determine whether Canadian children and youth with severe haemophilia A and B have BMD similar to healthy controls matched for height, age and weight (HAW-score). Secondary objectives included the exploration of any association between BMD and the following variables: factor replacement regimen, Hemophilia Joint Health Score (HJHS), bleeding history, physical activity level, and dietary intake of calcium, vitamin D, vitamin K and protein.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A cross-sectional observational study was designed to determine the BMD of children with severe haemophilia A and B in Canada. Ethical approvals were obtained from participating institutions. Thirty-eight participants aged 3–18 with severe haemophilia A and B were recruited from two treatment centres in Canada. Subjects underwent dual-energy X-ray absorptiometry (DXA) scan, and data was collected from regular clinic visit to identify factor replacement regimen, HJHS, and number of joint bleeds over the lifespan. Physical activity level and dietary intake of calcium, vitamin D, vitamin K and protein were identified using self-report questionnaires.</p> </sec> <sec><title style='display:none'>Results</title> <p>Participants showed a mean spine BMD Z-score and HAW-score higher than controls, with no participants showing a spine Z-score or HAW-score of &lt;0. Hip BMD score was within normal range, and 2 participants had a Z-score and HAW-score of &lt;−2. Total body BMD score was lower than controls, with 6 participants having a Z-score of &lt;−2.0, and 3 participants having a HAW-score of &lt;−2.0. Factor replacement regimen, HJHS, calcium intake, and physical activity level had no relationship to BMD Z-score or HAW-score. Low intake of vitamin D was associated with a low hip and spine BMD Z-score and HAW-score. Participants with a HJHS joint score greater than 0 had a higher total body HAW-score than those who had a joint score of 0.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>Canadian children with severe haemophilia A and B demonstrate differences in spine and total body BMD from height-, age-, and weight-matched controls, where spine BMD is higher than controls and total body BMD is lower than controls. Studies with a larger sample size are needed to clarify the status of BMD in children with haemophilia treated with primary prophylaxis.</p> </sec> </abstract>ARTICLE2021-10-14T00:00:00.000+00:00The B-team: Equal but different?<abstract> <title style='display:none'>Abstract</title> <p>As a person with haemophilia B, I have known there are differences between haemophilia A and haemophilia B and their respective treatment throughout my life – though I was shocked when I learnt about the impact inhibitors can have when it comes to bleeding. Despite being very rare, as well as difficult to manage, in a recent survey reported by Chaplin et al., many nurses had experience in managing haemophilia B inhibitors. Nurses in the survey also thought extended half-life (EHL) factor products would remain the optimal treatment for haemophilia B in 2025. Ongoing clinical trials for novel molecules like concuzimab and fitusiran signal the start of more treatment options for haemophilia B, and the development of gene therapy has focused on haemophilia B in the first instance. But the fact remains that the pharmaceutical industry has focused on developing treatments for the larger haemophilia A market. Could this have distorted perceptions around treatment? In a further ‘perception bias’ that impacts management, some nurses feel there are differences in bleeding phenotype between haemophilia A and B. Garner et al.'s paper discussing rIX-FX, suggests that treatment adherence is better in haemophilia B due to lower dosing frequency, making it an easier treatment option than for haemophilia A. The patient perception may be somewhat different. While dosing schedules in haemophilia B have been more consistent for longer, there has been less pharmacokinetic modelling in haemophilia B and, arguably, less opportunity for truly tailored treatment. Gene therapy has been shown to be more ‘successful’ for haemophilia B than haemophilia A, but emicizumab has raised questions about the need for gene therapy in haemophilia A. Having an ‘emi-equivalent’ for haemophilia B will raise the same questions and may give people haemophilia B and inhibitors an effective treatment that is as transformative as emicizumab has been in the haemophilia A population.</p> </abstract>ARTICLE2021-11-07T00:00:00.000+00:00Haemophilia specialist nurses’ perceptions of haemophilia B<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title> <p>Some clinicians believe that haemophilia B is associated with less bleeding than haemophilia A, yet there appears to be little difference in health-related outcomes. Current clinical practice reduces the risk of bleeds, making differences difficult to measure. We surveyed specialist haemophilia nurses to discern their opinions about the impact of haemophilia B compared to haemophilia A.</p> </sec> <sec><title style='display:none'>Methods</title> <p>Between July and September 2020, European and Canadian nurses were invited to complete an online survey (25 questions) about perceptions of management and treatment of haemophilia B.</p> </sec> <sec><title style='display:none'>Results</title> <p>Fifty-nine nurses (46 European, 13 Canadian) completed the survey. Bleeding was reported as different in haemophilia B by 37% of respondents, and treatment as different by over half. Opinions and experience around using extended half-life (EHL) products varied. Self-reported confidence in using EHL products was rated at a mean of 7.1 (range 3–10) with 47% believing these would remain the optimal treatment in 2025.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>Some nurses believe haemophilia A and B are managed differently. Variations in experience and levels of confidence in the use of EHL products, combined with a belief that these products will remain an optimal treatment for haemophilia B for the next five years, indicates a need for education to promote confidence and competence.</p> </sec> </abstract>ARTICLE2021-10-14T00:00:00.000+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+00:00Web-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+00:00Management of multiple myeloma in a patient with haemophilia with concurrent emicizumab – case report<abstract> <title style='display:none'>Abstract</title> <p>With the increased life expectancies of people with severe haemophilia A, diagnoses of disorders associated with increased age are likely to become more common. Multiple myeloma is a commonly diagnosed plasma cell dyscrasia, with incidence strongly related to age. Both the disease itself and specific myeloma therapies are associated with a significant increase in rates of venous thromboembolism (VTE). Management of VTE prophylaxis can be challenging, especially in patients with a bleeding disorder. In this case report, we describe the management of a patient with concurrent diagnosis of multiple myeloma and severe haemophilia A, undergoing first line myeloma chemotherapy. The patient was successfully managed on standard of care myeloma treatment, with use of emicizumab and venous thromboprophylaxis. This case demonstrates the successful management of a haematological malignancy and a bleeding disorder using integrated and multidisciplinary patient-focused care.</p> </abstract>ARTICLE2021-12-22T00:00:00.000+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+00:00“You’re only a carrier” – women and the language of haemophilia<abstract> <title style='display:none'>Abstract</title> <p>Women who have the gene variant for haemophilia are labelled solely as ‘carriers’ unless they have a factor VIII activity of ≤40%. This term, which describes an individual who can pass on a disorder but are themselves unaffected, reflects a legacy that extends from the 18th century to the present day. There is strong evidence that women labelled as carriers experience heavy periods, joint damage, pain and impaired quality of life. The label ‘carrier’ does not recognise this burden and is associated with guilt, stigma and difficulty accessing care. People living with a long-term disorder should now be described using person-first terminology and it is common to see the term ‘people with haemophilia’. The term ‘carrier’ should be limited to its application in genetics and not used as a catch-all label for women with haemophilia.</p> </abstract>ARTICLE2021-11-07T00:00:00.000+00:00“What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Haemophilia treatment has improved life expectancy as well as lowered annual bleed rates and treatment burden for recent generations of people with haemophilia (PwH). However, PwH still face significant disease-related challenges on a day-to-day basis.</p></sec><sec><title style='display:none'>Aims</title><p>The aim of the present study was to explore the everyday life of PwH, including their beliefs and experiences related to their condition, their treatment, the challenges they face, and their ways of managing their condition.</p></sec><sec><title style='display:none'>Materials and methods</title><p>PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). Between 8–12 hours were spent with each person with haemophilia and/or their family, to follow them in their daily lives. Patient consultations with health care professionals (HCPs) were also observed when it was agreed in advance by both parties. In addition, HCPs were interviewed and haemophilia treatment centres (HTCs) were visited. Data were collected through semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of the interactions of PwH with friends, family, and HCPs.</p></sec><sec><title style='display:none'>Results</title><p>Research was conducted with 42 people with haemophilia A and 9 people with haemophilia B, between 1.5 and 82 years of age. Interviews often included the wider social ecology of each PwH, including friends, family, and caregivers. In addition, 18 HCPs from seven HTCs were interviewed (on-site observation was carried out at six HTCs). The study found that despite treatment adherence and advances in treatment approaches, many PwH may be suboptimally protected and still experienced regular bleeds, pain and restrictions in their daily life. Moreover, many had built a narrative of normalcy around this way of living with haemophilia, and as such these issues are an expected and neglected reality of living with haemophilia today.</p></sec><sec><title style='display:none'>Conclusions</title><p>The results of this research indicate the need for more personalised and optimised treatment approaches which are better adapted to personal and life-stage specific challenges of PwH. Such an approach could help reduce challenges for PwH, their families, and the health care system, and further research into such approaches would be valuable.</p></sec></abstract>ARTICLE2020-06-08T00:00:00.000+00:00Do nurses have the switch factor?<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Introduction</title><p>Switching between clotting factor products is becoming increasingly common as product choice increases and financial pressure grows to choose the most cost-effective options. Guidance on carrying out the switch recommends a complex and long process that may benefit from being defined in a protocol. Haemophilia nurses may be responsible for managing product switches; anecdotal evidence suggests that clinical practice is variable.</p></sec><sec><title style='display:none'>Aim</title><p>To explore the role of specialist nurses in switching between clotting factor products and their use of a protocol.</p></sec><sec><title style='display:none'>Method</title><p>Nurses attending the 2018 World Federation of Hemophilia Congress were surveyed about clinical practice at their treatment centre and use of a protocol for switching clotting factor products.</p></sec><sec><title style='display:none'>Results</title><p>Of 192 nurses attending the conference, 49 nurses returned completed questionnaires, 45 of which were included in the study after exclusions. Responses were exclusively from economically developed countries. Almost all respondents (96%) had direct experience of switching. Half of those who responded to a question about protocol-based switching reported that switches were based on a protocol. When authorship was reported, the protocol was written by haemophilia nurses in about half of cases. Practice about blood testing to determine individual pharmacokinetic parameters prior to the switch was variable, but most nurses (86%) reported screening for inhibitors prior to switching. Respondents agreed to share their protocols among their peers, although only four were received by the research team.</p></sec><sec><title style='display:none'>Conclusions</title><p>Clinical practice in switching between clotting factor products is variable. Some nurses are switching treatments for patients without the supported of a written protocol, whereas others are involved in writing and implementing protocols. Sharing protocols is a first step in helping to establish best practice.</p></sec></abstract>ARTICLE2020-11-19T00:00:00.000+00:00Treating for stability: an ethnographic study of aspirations and limitations in haemophilia treatment in Europe<abstract><title style='display:none'>Abstract</title><sec><title style='display:none'>Background</title><p>Recent improvements in approaches to treatment have opened a window of opportunity to redefine and expand the goals of treatment in haemophilia This article explores treatment culture in light of these improvements and its potential impact on the range of possibilitis in the lived experience of haemophilia.</p></sec><sec><title style='display:none'>Aims</title><p>The aim of this article is to further investigate findings related to how health care professionals (HCPs) approach haemophilia treatment and care, one of the main themes identified in an ethnographic study of the everyday life of people with haemophilia (PwH). This large-scale study investigated PwH's beliefs and experiences related to their condition, their treatment, and their 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 providing historical and disease area context prior to the initation of field research. In the field, study researchers collected data through 8–12 hours of participant observation, semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of the interactions of PwH with friends, family, and HCPs. Study researchers also conducted on-site observation at haemophilia treatment centres (HTCs) and interviewed HCPs. 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, challenge mapping, and clustering exercises. This article explores findings related specifically to how HCPs approach haemophilia treatment and care, 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 in Italy, Germany, Spain, UK, and Ireland were interviewed and followed in their daily lives. Eighteen HCPs from seven HTCs were interviewed, and on-site observation was undertaken at six of the HTCs. Most haematologists in the study ‘treated for stability’, rather than to guide PwH to overcome limitations. ‘Treating for stability’ here refers to an approach to haemophilia care that focuses on measuring success in terms of annual bleed rate, instilling a focus on mitigating risk, rather than an approach that allows PwH to overcome the limitations they face due to their condition. However, some haematologists had moved beyond treating for stability to instead treat for possibilities, enabling a better quality of life for PwH.</p></sec><sec><title style='display:none'>Conclusions</title><p>These results suggest that a culture of ‘treating for stability’ could be limiting progress in expanding the goals of treatment in haemophilia. Expanded metrics of success, more flexible approaches to treatment, and higher ambitions on behalf of PwH may be needed in treatment and care, in order for PwH to fully benefit from treatment advances and to increase their quality of life.</p></sec></abstract>ARTICLE2020-12-17T00:00:00.000+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+00:00en-us-1