Moving beyond limitations: A narrative review exploring the intersection of haemophilia and physical activity
Abstract Persons with haemophilia (PwH) have historically been advised to avoid physical activity (PA) to limit bleeding risk, leading many to adopt sedentary lifestyles. The paradigm shift in treatment for PwH toward prophylaxis with extended half-life factor concentrates and non-factor replacement therapy has substantially reduced joint bleeding and deterioration, allowing PwH to lead more active lives with improved protection against bleeds. This has led to increased recognition of the importance of regular PA for musculoskeletal strength, joint and cardiovascular health, quality of life, and social/psychological well-being among PwH. Nonetheless, hesitation regarding risks of PA for PwH persists, and key clinical questions including haemostatic protection for safe participation in PA remain largely unanswered. This narrative review summarises the considerations for PA in PwH and its role in haemophilia management with associated recommendations from key organisations, focusing on shared decision-making and individualised treatment planning. Key strategies to increase PA among PwH include promoting sustained behavioural change and potential use of wearable activity trackers. Higher haemostatic potential is consistently associated with protection against PA-related bleeds. An increasing evidence base indicates that both factor and non-factor therapies can safely enhance physical function and support greater PA, although additional evidence is needed for novel and emerging treatments. Further research is needed to help clinicians individualise prophylaxis regimens in a holistic manner that includes consideration of PA. Recommendations for PA in PwH must continue to progress alongside the evolving therapeutic landscape.
Copyright (c) 2025 Kelsey Uminski et al., published by Haemnet Ltd http://creativecommons.org/licenses/by-nc-nd/4.0
Physical function and quality of life in adolescents with haemophilia (SO-FIT study)
Abstract Introduction Self-completed measures of physical function and quality of life are increasingly being used in clinical practice yet little is known about how these measures correlate with joint scores in boys with severe haemophilia. In addition, it is not known whether currently used measures of functional outcome correlate with quality of life measures, which measure of physical function is most accurate and whether these measures are acceptable to a well treated contemporary cohort of boys. Methods The Study Of physical Function In adolescenTs with haemophilia (SO-FIT) is a multicenter, randomized cross-over study designed to answer these questions, and to determine whether these self-reported measures are completed more fully and frequently if made available on mobile devices rather than with conventional pen and paper questionnaires. The study is being run by haemophilia nurse specialists and physiotherapists in UK haemophilia centres and will recruit 120 boys with severe haemophilia A or B, with or without inhibitors aged 8-16 years. Results The SO-FIT study is now underway, and is expected to complete by the end of 2014.
Copyright (c) 2014 Kate Khair, Melanie Bladen, Michael Holland, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Adherence to treatment in adolescents with haemophilia: a qualitative study
Abstract introduction Adolescents experience important changes in their physical, emotional, social and behavioural development. It is known that adolescents wish to be accepted by their peers, strive for independence and are prone to experiment. The challenge for adolescents with haemophilia is the need for taking responsibility for managing their illness and learning to comply with recommended treatment. This study aimed to investigate the process of adherence to treatment in adolescents with haemophilia. Methods Grounded theory was used, based on one-on-one interviews (n=13) with adolescents with haemophilia. Results The results include the core category “maturing self-competence” which represents the continuous developmental process from birth to teens with regard to haemophilia care. Three constitutive categories “living in a haemophiliac’s body”, “sharing with others” and “being protected and walking in faith” represent basic experiences in an adolescent's life. Further emergent categories include “becoming and staying informed”, “becoming and staying an expert”, “being in action”, “living between oblivion and awareness”, and “finding peace”. The adolescent stage “maturing self-competence” and their assessment of the situation at hand form the basis for decisions concerning adherence. Conclusion Considering adolescents to be competent managers with regard to their disease, and including them in a partnership decision-making process for the therapeutic regime are the most important requisites for effective adherence.
Copyright (c) 2014 Elsbeth Müller-Kägi, Manuela Albisetti, Andrea L Koppitz, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
IM botulinum toxin-A improves ambulation in severe haemophilia and cerebral palsy
Abstract Introduction The use of BtA in spasticity management is well documented in the literature for the management of hypertonicity in children with cerebral palsy. Methods We report a case of a 2-year-old boy with severe haemophilia and cerebral palsy who received intramuscular injections of botulinum toxin-A (BtA) to reduce his spastic diplegia lower limb hypertonicity. Results Following treatment, clinical and formal assessments demonstrated positive changes in ambulation, tolerance of orthotics, functional abilities and musculoskeletal range of movement and no adverse bleeding side effects. Conclusion The use of BtA should be considered for the management of hypertonicity in children with haemophilia and cerebral palsy.
Copyright (c) 2014 Melanie Bladen, Karen Edwards, Kate Khair, Eleanor Main, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Switching factor products: selecting patients and managing the process
Abstract Clotting factor concentrates used in the treatment of haemophilia are now procured centrally in the UK by nationally organised competitive tendering to obtain the best product price while still preserving some degree of prescribing freedom. Inevitably, however, some patients are required to switch from one brand of factor VIII to another to fulfil contractual requirements. This process of switching patients from one product to another falls to staff at individual haemophilia centres, with haemophilia nurses in particular playing a key role. This article outlines the national procurement process and discusses how the switch can be managed quickly and smoothly, as well as providing practical guidance on selecting which patients may be asked to switch. Issues such as patient communication, managing potential patient anxiety and efficient stock management are also discussed.
Copyright (c) 2014 Christine Harrington, Charles Hay, Vicky Vidler, Rashesh Dattani, Katherine Heygate, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Diagnostic and therapeutic status of haemophilia in Latin America
Abstract The Latin American net of Prophylaxis and Immune Tolerance (RED LAPI) was established in 2010 and comprises a group of physicians dedicated to improving the diagnosis, treatment and quality of life of haemophilia patients in Latin America. The countries represented at RED LAPI are: Argentina, Chile, Uruguay, Venezuela, Colombia, Peru, Honduras, Guatemala, Paraguay, Dominican Republic, Bolivia, Ecuador and Panama. Analysis of the provision of care for haemophilia patients suggests a lack of consistent care both across and within Latin America countries. While some patients receive prophylaxis and immune tolerance induction (ITI), others are not even properly diagnosed, due to variation in patient’s health insurance. Few countries in Latin America have a national program that registers all patients’ information. Therefore, in many countries it is difficult to identify local, regional and national data regarding the number of diagnosed patients, type of hemophilia, severity, and the kind of treatment. With respect to patients with inhibitors, some countries rely on bypass agents for the treatment of bleeding episodes while a few are able to do ITI. This paper summarises available data obtained by a survey of RED LAPI members regarding the diagnosis and treatment of haemophilia in their countries, as well as the incidence of inhibitors and the treatments available to patients. Based on this analysis, the aim is to propose plans to improve the current situation of haemophilia patients in Latin America.
Copyright (c) 2014 Cesar Alberto Montaño, Maria Sol Cruz, Felipe Lemos, Alfredo Quiroz, Gerardo Rojas and others, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Octapharma’s balanced portfolio built on a very special juice
Abstract Octapharma's core business is the development and production of human proteins from human plasma and cell lines. As the company moves into the recombinant arena, Chairman Wolfgang Marguerre discusses opportunities and threats with Editor-in-Chief Kate Khair
Copyright (c) 2014 Kate Khair, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
The Bleed ... Through the eyes of a child
Abstract Most health care professionals will regard treating a bleed with factor as a routine matter. But bleeds - and getting them treated - can still be a major stress for patients. Trish Bell takes a walk in Sam’s shoes
Copyright (c) 2014 Patricia Bell, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Copyright (c) 2014 Erik Berntorp, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Copyright (c) 2014 Andrew Brewer, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
A dental care pathway for children with inherited bleeding disorders
Abstract Royal London Hospital is a major referral centre for children with inherited bleeding disorders (IBD). Dental caries and periodontal disease can be prevented, which is especially important in these children to avoid invasive treatment. For this reason a care pathway has been established, focusing on appropriate prevention advice and treatment A Paediatric Dental Specialist attends the monthly Paediatric Haematology clinics. Children are screened for untreated dental decay and preventive dental advice is given verbally along with a patient information leaflet. At the clinic, a letter is sent out to the patient’s general dental practitioner (GDP). Nonregistered patients are directed to NHS Choices website to find a local NHS GDP. Liaison of GDPs with both haematology and hospital paediatric dental services is actively encouraged to support the provision of dental care within the primary care setting, particularly routine preventive care. Depending on the severity of the bleeding diathesis and the degree of invasive dental treatment required, the GDP may undertake simple treatment or, in more complex cases, may arrange a referral to the Royal London Dental Hospital. A consultation process takes place between paediatric dentist, paediatric haematologist and specialist nurse to determine the most appropriate haematological cover for each patient. This will depend on the severity of the bleeding disorder, the complexity of dental treatment and the need for local anaesthesia. The date of the dental visits and the haemostatic cover are requested via the electronic patient record so that it is accessible to all clinicians involved in their care without the need to retrieve their paper notes. This pathway encourages active involvement of the patients’ GDP and allows the patient to be treated as safely as possible in a timely manner. The care pathway has helped to formalise dental treatment for children with IBD and to improve every health care professional’s understanding of their role in this care.
Copyright (c) 2014 Franchesca Fong, Janet Davies, Janice Fearne, John Pasi, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
The perioperative management of haemophilia: easier said than done
Abstarct Haemophilia is the oldest known rare genetic bleeding disorder that disrupts the blood clotting process. Although the level of haemophilia care has improved substantially, the problems of management in developing countries are poor awareness, high costs of treatment, inadequate diagnostic and coagulation screening facilities and scarce factor concentrates for therapy. We present here the problems in the perioperative management of a case of haemophilia A in India. It portrays the current picture of haemophilia management in many developing countries around the world.
Copyright (c) 2014 Madhuri S Kurdi, Ravikumar R Jadhav, Jaideep Ratkal, Jasvinder Kaur, Ashwini H R, Sheetal Hiregoudar, Radhika Deva, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Joint assessment in haemophilia – current physiotherapist practice in the UK
Abstract Aim UK guidelines recommend regular assessment of joint status in children with haemophilia using a standardised tool performed by haemophilia physiotherapists. We surveyed UK physiotherapists working in haemophilia care regarding their current practice with respect to joint scoring. Methods A survey was posted on SurveyMonkey and all haemophilia physiotherapists practising in the UK were invited to respond. Responses were analysed and discussed at a roundtable meeting attended by invited physiotherapists and specialist haemophilia nurses. Results In all, responses were received from 29 of the estimated 37 physiotherapists in the UK who see haemophilia patients. Both the survey and subsequent discussion reflected agreement that joint scoring offers a valuable tool to clinicians, but that better ways of assessing joint health were needed. There was enthusiasm for combining joint scoring with systematic and validated patient-reported outcome measures. Conclusion Greater understanding is needed of the relationship between joint scores and measures of physical function and quality of life.
Copyright (c) 2014 Paul McLaughlin, Melanie Bladen, Mike Holland, Kate Khair, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
HaemophiliaLIVE: an ethnographic study on the impact of haemophilia on daily life
Abstract Introduction Haemophilia causes joint, muscle and soft tissue bleeds, often leading to pain and disability. These effects can have a significant impact on patients’ well-being and quality of life. There is a need to better understand patient priorities and concerns so that haemophilia healthcare professionals can develop strategies to meet these needs with individuals and their families. Methods The HaemophiliaLIVE ethnographic study enrolled 16 families from four comprehensive care centres in the UK. Each family received a kit consisting of video recording equipment, seven sealed envelopes each containing a “secret question” and pre-paid envelopes for secure return of the video memory cards. Video footage was recorded daily to examine the impact of haemophilia. Results Over 30 hours of recorded footage was obtained from 10 families with children/young adults, two young adults, and three older men. Six participants had a current inhibitor. The key themes identified were impact on: family relationships, school, employment and travel. The older participants and those with inhibitors reported that pain was a major factor in their day-to-day lives, and also expressed fear about loss of mobility and pending surgery. Although parents expressed anger and sadness about their child’s haemophilia, those with haemophilia were generally positive about their life experiences. Many reported that their employers were understanding and made additional provision for their haemophilia. Conclusions Haemophilia has a significant impact on patients and their families. This research provides insight on the support needs of individuals and families.
Copyright (c) 2014 Kate Khair, Anica Phillott, Christine Loran, Debra Pollard, Claire Forrester, Sharon Alavian, Susan Hook, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Successful use of BPL Factor X concentrate in a child with severe factor X deficiency
Abstract Introduction Severe factor X deficiency is a rare serious bleeding disorder historically treated with fresh frozen plasma (FFP) and more recently with prothrombin complex concentrate (PCC) which contains activated factors II, VII, IX and X. The infusion volume of PCC is smaller than FFP, but there is a risk of thromboembolic complications given the presence of activated forms of vitamin K-dependent factor concentrates when treating an isolated coagulation factor deficiency. Methods We describe the case of a nine-year-old girl of consanguineous origin with co-existent congenital merosin deficient muscular dystrophy and severe factor X deficiency treated with twice-weekly PCC prophylaxis via an indwelling central venous access device (CVAD). Infusion occlusion of her fifth CVAD occurred 24-months post-insertion; thrombus within the right subclavian and brachiocephalic veins was seen on radiological imaging. She started peripheral treatment with BPL Factor X concentrate as infusion volumes were smaller and given her immobility further thrombotic risk was predicted to be reduced. A sixth CVAD was inserted seven months later and BPL Factor X prophylaxis was continued. Results BPL Factor X concentrate was effective in maintaining trough levels of 13IU/ml 72-hours post-dose, with no intercurrent bleeding episodes or further problems in terms of occlusion of her portacath. Further radiological screening has not been undertaken. Conclusion BPL Factor X has been shown to be a safe and effective alternative to PCC for treatment of severe factor X deficiency in this case.
Copyright (c) 2014 Kate Khair, Poornima Kumar, Mary Mathias, Jemma Efford, Ri Liesner, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Women with haemophilia: more than just carriers
Abstract It is said that men have haemophilia and women are carriers, affected or unaffected. The terminology used is significant. Why it is that men are described as ‘having’ haemophilia and women with haemophilia are described as affected carriers? After all the men ‘carry’ the gene just as the women do and pass it on to their daughters. Likewise many women have Factor IX or Factor VIII levels that, if they were a man, would be categorised as mild or even in some cases moderate or severe haemophilia. Yet haemophilia is widely viewed as a condition affecting men with women as the passive vehicle for its transmission from generation to generation. There are many issues for women that are affected by this choice of terminology. Among them are their ability to access healthcare and their acknowledgement within healthcare systems throughout the world. Are women with the same factor level as men viewed in the same manner by healthcare professionals and do they acknowledge their own bleeding disorder as being the same as their male counterparts? How many women are unaware of their own bleeding disorder because they have only been viewed as ‘carriers’? Research into these issues is limited. This paper explores the aspects that affect women with haemophilia, from the definition in its historical context, obtaining a diagnosis, psychosocial elements, access to treatment, changing attitudes and acknowledgements within both the medical community and the wider community.
Copyright (c) 2014 Robin Sager, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Copyright (c) 2014 Kate Khair, Daniel Hart, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
How specialist nurse-led care can help to lower the costs of prophylaxis
Abstract Prophylaxis with factor VIII concentrates is beneficial for adults with severe haemophilia A, but prophylaxis regimens are costly. Guidelines recommend personalised prophylaxis tailored to bleeding phenotype and the result of pharmacokinetic assessments. This article describes a project in which specialist nurses played a pivotal role in identifying a small cohort of patients eligible for dose reduction. Nurses monitored patients following dose reduction, maintaining contact in order to address fears and ensure patient safety. The project led to a substantial cost saving for the Trust and demonstrates the value that nurses can bring to the haemophilia centre.
Copyright (c) 2013 Allison Greig, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Successful immune tolerance in two children with severe haemophilia A
Abstract Haemophilia A is an X-linked congenital bleeding disorder resulting from a deficiency of factor VIII (FVIII). Therapy to prevent or treat bleeding is by replacement of the missing FVIII. However, as a consequence of treatment, patients with HA may develop inhibitory IgG antibodies to FVIII, termed “inhibitors”. When this occurs, treatment becomes more complex and costly and morbidity increases. Inhibitor formation, occurring in up to 36% of patients with severe HA, is currently one of the most significant complications affecting patients with HA [1,2]. In these two case studies, the management of bleeds in patients with inhibitors, and the long-term inhibitor eradication will be discussed.
Copyright (c) 2013 Bert Leenders, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Abstract Two articles in this launch issue of the journal explore the patient experience of haemophilia. To set the context, Martin Bedford explains the grounded theory method, and gives a brief overview of how and when it might be used in haemophilia research.
Copyright (c) 2013 Martin Bedford, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
‘I can always rely on them’: the importance of social support for boys with haemophilia
Abstract Background Little is known about where, and from whom children with haemophilia receive support, as there is a paucity of psychosocial research on this topic. This paper, part of a larger study of living with haemophilia, discusses the importance of social support for boys with haemophilia. Methods Data were collected from 30 boys aged 4-17 years with severe haemophilia A or B from a single Haemophilia Comprehensive Care Centre in the United Kingdom. Age appropriate participatory qualitative research techniques: photo-elicitation, draw and write, focus groups and individual interviews were used. All data were transcribed and the content was analysed using grounded theory. Results Social support was gained in many ways from individuals who were identified by the study participants as supportive. These included parents, siblings (affected themselves or not), family members (who may also be affected) and friends. Being able to share experiences with others was also described as supportive. Conclusion The boys in this study described many sources of social support, which changed over time as they grew older. Commentary, J Haem Pract 2014;1(1):23.
Copyright (c) 2013 Kate Khair, Faith Gibson, Liz Meerabeau, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Boys and parents’ perceptions of living with haemophilia and an inhibitor
Abstract This study examined the perception of the quality of life in a small group of boys (aged 8-15) who have severe haemophilia and have also developed inhibitors and their parents. The study design was a qualitative research methodology using a phenomenology theory approach in order to gain perspectives from participants in a series of semi-structured interviews. The study showed that inhibitor development had an impact on the perceived quality of life of these boys and their families and in so doing threatened the coping mechanisms that had worked effectively for them in the past. Although there is adequate awareness among haemophilia treaters of the psychosocial impact of inhibitor development on family life, this may not always be seen as a priority when managing these boys. The study also identified gaps in the published evidence as well as scope for future study. Commentary, J Haem Pract 2014;1(1):23.
Copyright (c) 2013 Anica Phillott, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Nurse-led research offers unique insights into patients’ psychosocial concerns
Copyright (c) 2013 Vicky Vidler, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
The role of the European haemophilia nurse
Abstract Background A broad scoping exercise was undertaken to assess and quantify haemophilia nursing care in Europe. Methods A web-based survey in English was sent to known networks of haemophilia nurses working in Europe. This survey included questions concerning the haemophilia treatment centre, educational level, work activities, gaining knowledge/ expertise and development in the future. Results In total, 94 nurses in 14 countries in Europe completed the survey. Overall, the majority (62%) of the nurses had over 20 years’ nursing experience, with 44% having more than 10 years’ experience in haemophilia. The educational level varied; with highest educational level of attainment being 41% at nondegree level nursing entry qualification, 35% BSc and 24% MSc. 21% worked in a centre where they treat only children, 26% only adults and 53% both. All had good access to treatment. The core activities (rated >80%) of a haemophilia nurse were: prepare and administer medication, venepuncture and CVADuse (except cannulation), providing education and telephone advice, coordination of (multidisciplinary) care and assistance with clinical trials. Furthermore, 35% stated that they initiated and performed nurse-led research. In the future, almost all nurses would like to develop their expertise and knowledge base by studying at Masters level and above, to have more responsibility, and to conduct research. Conclusion This scoping exercise provides a baseline assessment of haemophilia nursing across Europe. The results may provide a basis for a more thorough investigation of the current role and the principles of haemophilia nursing care; future opportunities, and the training requirements to develop the specialty.
Copyright (c) 2013 Liesbeth Schrijvers, Martin Bedford, Petra Elfvinge, Karin Andritschke, Bert Leenders, Christine Harrington, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
How nurses built a specialty from scratch
Abstract Haemophilia nursing is a relatively young specialty. For early nurses like Maureen Fearns there was no roadmap. She recalls the birth and early tribulations of the HNA
Copyright (c) 2013 Jenny Bryan, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
A core competency framework for haemophilia nurses in the UK
Abstract The role of the nurse continues to develop, probably at greater speed than ever before. Would Florence Nightingale ever have dreamt of nurses who could manage whole episodes of patient care from diagnosis, through admission, requesting investigations, prescribing treatments and evaluating outcomes? She probably did - when she instigated the first nursing outcome measures looking at infection control. Nurses can and do, do most things. What is important is that they are appropriately trained and continue to develop skills, that are relevant both to them and the patients for whom they care. Assessing this ability, or competence, requires knowledge and skills in itself. In this paper we describe the process of defining competence in haemophilia nursing. Some of these competencies are transferable from other areas of nursing, others are haemophilia-specific. Together they provide a personal development framework for nurses who work within haemophilia as part or all of their role.
Copyright (c) 2013 Kate Khair, Colin Barker, Martin Bedford, Daksha Elliot, Christine Harrington, Kingsley Lawrence, MNicola Mackett, Debra Pollard, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Abstract Kate Forsyth recounts her experiences of a WFH twinning programme with Bangladesh and reveals that where learning is concerned, twinning is a two-way street
Copyright (c) 2013 Kate Forsyth, Rafia Khatun, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Nurses should become more involved in haemophilia research
Abstract Brian O’Mahony, Chief Executive of the Irish Haemophilia Society and President of the European Haemophilia Consortium, tells Jenny Bryan about the special role that nurses play within the haemophilia community
Abstract Olivia Timbs was editor of The Pharmaceutical Journal from 2001 to 2012 and in the past wrote regularly for The Times, The Observer and The Independent. Here she offers some simple tips to help you write effectively
Copyright (c) 2013 Olivia Timbs, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0
Abstract Trish Bell is rapidly making a name for herself as the HNA’s resident poet. Here, in her own inimtable way, she tells us of her path towards haemophilia nursing
Copyright (c) 2013 Patricia Bell, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/4.0