<abstract xmlns="http://www.w3.org/1999/xhtml"> In recent decades, few disorders have benefited more from scientific research than haemophilia. Those living with the condition have witnessed improved standards of care resulting in dramatic improvements in quality of life. The Katharine Dormandy Haemophilia Centre and Thrombosis Unit has made a proud contribution to this improvement in care.</abstract>

Celebrating 50 years of haemophilia care at the Royal Free Hospital

<abstract xmlns="http://www.w3.org/1999/xhtml"> Use of recombinant clotting factor now represents the standard of care in haemophilia across the developed world. But the recombinant era would not have occurred without the isolation from plasma of factor VIII in sufficient quantities to allow characterisation and cloning. Much of this development work occurred at the Royal Free Hospital.</abstract>

The road to cloning of factor VIII and the recombinant era

<abstract xmlns="http://www.w3.org/1999/xhtml"> The HIV and hepatitis C epidemics of the 1980s represent the darkest days in the history of modern haemophilia care. The haemophilia centre at the Royal Free Hospital was at the forefront of research into the natural history of both diseases. This work led directly to the widespread use of recombinant products, as well as the establishment of combined haemophilia clinics with hepatologists and HIV physicians.</abstract>

Blood borne infections and haemophilia: the worst of times

<abstract xmlns="http://www.w3.org/1999/xhtml"> Advances in the understanding of haemophilia require effective collaboration, both at the national and international levels. Such collaborations are currently playing a major role in elucidating the natural history of acquired haemophilia, and also in clarifying the issue of product-related inhibitor development in previously untreated patients with haemophilia.</abstract>

Diagnosis and management of inhibitors: the need for professional collaboration

<abstract xmlns="http://www.w3.org/1999/xhtml"> The development of registries through international collaboration has facilitated better understanding of the rare bleeding disorders. Such work has shown that rare bleeding disorders are heterogeneous and need to be studied singularly, and that heterozygous patients may bleed. There is a need to understand the minimum plasma coagulant activity level to prevent spontaneous bleeding. Moreover, due to the low prevalence of rare bleeding disorders, the management of this patient population remains a challenge. Data collection on clinical history, efficacy and side effects of treatment needs to be harmonised.</abstract>

International databases open the door to improved care for rare bleeding disorders

<abstract xmlns="http://www.w3.org/1999/xhtml"> The Katharine Dormandy haemophilia centre has played an enormous role over many years in providing outreach programmes to centres in developing countries. Doing so offers the potential to improve patient care by enhancing understanding of the need for accurate diagnosis and management.</abstract>

Supporting outreach programmes for haemophilia diagnostics

<abstract xmlns="http://www.w3.org/1999/xhtml"> Modern haemophilia care based on good diagnosis and effective prophylaxis has allowed boys born with haemophilia to grow up leading essentially normal lives. Nevertheless, there remain challenges notably those posed by inhibitors and patient expectations. There is now a significant cohort of men in their 30s, 40s and 50s who have been looked after extremely well but many of whom now have significant ankle arthropathy because they played football, even when advised not to do so at a time when prophylaxis was limited or started late. The imminent era of longer-acting clotting factors and gene therapy will also impact on future patient expectations. Meeting and managing these challenges will be much enhanced by the development and maintenance of good relationships between the patient and the haemophilia team.</abstract>

The modern challenges of haemophilia care in childhood and adolescence

<abstract xmlns="http://www.w3.org/1999/xhtml"> The multidisciplinary team approach to providing comprehensive care is the cornerstone of the management of musculoskeletal issues in haemophilia. At the Royal Free the team takes a holistic approach to musculoskeletal disease management that is not just about assessment of a painful knee or having an operation. It recognises that patients sit on a spectrum of musculoskeletal disease severity that is dependent on age and the type of treatments available and the issues that may have been experienced with those treatments. The patient’s own goals sit at the heart of the team’s approach.</abstract>

Musculoskeletal care in haemophilia: the importance of the joint team approach

<abstract xmlns="http://www.w3.org/1999/xhtml"> The issue of women with bleeding disorders was first reported by Professor von Willebrand in 1926, but it is only from around the mid 1990s that the issue has been fully recognised. Much of this is due to the vision and hard work of Professor Christine Lee and colleagues at the Katharine Dormandy Haemophilia Centre. This work has led to better diagnosis, better quality care and improved quality of life for women with bleeding disorders.</abstract>

Gynaecological and obstetric care for women with inherited bleeding disorders

<abstract xmlns="http://www.w3.org/1999/xhtml"> Staff at the Katharine Dormandy Haemophilia Centre pioneered a systemic family therapy model for haemophilia, in which reviews combined medical care and family counselling. That approach has now been extended to specialised joint clinics such as in orthopaedics, women’s and genetic counselling. This multidisciplinary team approach enables specialist clinicians to focus on what they do best while the family therapy team manages the psychological, practical and family issues, and supports patients to make difficult decisions regarding their care.</abstract>

An approach that puts the family at the centre of haemophilia care

<abstract xmlns="http://www.w3.org/1999/xhtml"> Patients with haemophilia have benefited hugely from the advances in basic science achieved over the past 50 years. The introduction of clotting factor concentrates opened the door to home treatment and the subsequent availability of plasma and then recombinant products heralded the prophylaxis era. As clinicians and patients begin to manage the introduction of longer-acting factor concentrates, there are also many novel therapies and approaches in development, many of which offer the potential to transform the lives for individuals with inherited bleeding disorders and their families.</abstract>

Into the future with novel emerging therapies for haemophilia

<abstract xmlns="http://www.w3.org/1999/xhtml"> AAV-mediated gene therapy has the potential to be paradigm shifting as a treatment for haemophilia. A single administration of AAV vector can result in safe and consistent long-term expression of transgene (>5 years), reduction in spontaneous bleeding episodes, reduction in clotting factor usage and an improvement in quality of life. There is huge commercial interest in this approach, with the expectation that an AAV gene therapy product for haemophilia B will be licensed by 2020.</abstract>

Gene therapy for haemophilia: a very modern success story

<abstract xmlns="http://www.w3.org/1999/xhtml"> The need to prepare children and young people with haemophilia for long-term care in the adult sector has long been accepted and is reflected in many national health care policies. Ideally, transition should be an individualised age- and development-appropriate process, through which each young person is empowered to self-manage, with support from their families and multidisciplinary team (MDT). It is widely recognised that young people who are not engaged in self-management frequently become non-adherent to therapy. For those with haemophilia, this can have a life-long impact on joint health and quality of life. In practice, anecdotal reports from individuals suggest that the transition process is often poorly planned, leaving them feeling lost and unsupported by the healthcare professionals who, until this point, have been core members of their support network. Rarely are the views of young people or their families sought regarding the outcome of their transition process. For those with less severe disease or rarer bleeding disorders, and for girls at the menarche, transition is often not addressed at all. This literature review forms the first part of a project that seeks to identify the outcome measures that can be used to drive a nurse-led initiative improvement in transition for young people with bleeding disorders, through changes in both working practices among health professionals and in the underpinning system, which enables them to put such changes into practice.</abstract>

Literature Review: Transition From Paediatric to Adult Services in Haemophilia

AHEAD OF PRINT

Volume 11 (2024): Issue 1 (January 2024)

Volume 10 (2023): Issue 1 (January 2023)

Volume 9 (2022): Issue 1 (January 2022)

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Volume 7 (2020): Issue 1 (January 2020)

Volume 6 (2019): Issue 2 (January 2019)

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Volume 5 (2018): Issue 1 (April 2018)

Volume 4 (2017): Issue 1 (January 2017)

Volume 3 (2016): Issue 2 (July 2016)

Volume 3 (2016): Issue 1 (January 2016)

Volume 2 (2015): Issue 2 (July 2015)

Volume 2 (2015): Issue 1 (March 2015)

Volume 1 (2014): Issue 3 (October 2014)

Volume 1 (2013): Issue 2 (May 2013)

Volume 1 (2013): Issue 1 (January 2013)

The Journal of Haemophilia Practice

 The Journal of Haemophilia Practice is an international, open-access, peer-reviewed journal that aims to provide a forum for all members of the multidisciplinary bleeding disorders care team.   It is now widely recognised that the care and management of people with haemophilia and other rare bleeding disorders should always be based on a multidisciplinary approach, with value placed on the specific expertise brought by allied health care professionals, including nurses, physiotherapists, data managers, social workers, and psychologists. We believe that sharing experience on evidence-based care, and understanding the lived experience of rare bleeding disorders, helps to promote expertise and benefits patients.   Any manuscript that is relevant to current bleeding disorders care and practice will be considered for review and publication. To this end, we positively welcome:        Original research    Case reports    Case series    Methodology papers   Reviews in any field of bleeding disorders of relevance to current clinical practice   Clinical Updates that describe current advances in any clinical field related to bleeding disorders   Editorials that address a particular topic of current interest.   Outcomes research written by and/or with individuals affected by bleeding disorders    Please note that case reports should meet the standards outlined in the CARE Case Report Guidelines. Authors submitting case reports are advised to consult the CARE Checklist.   Manuscripts should be submitted to The Journal of Haemophilia Practice via ScholarOne (see Submit). All manuscripts will first be subject to a technical review, including a quality check of all files submitted and including a plagiarism check. Manuscripts will then be reviewed by the Editor-in-Chief, who will decide whether or not to proceed to peer review. The journal operates a double-blind peer review process. The review procedure will result in one of four decisions:        Immediate accept   Minor revision   Major revision   Reject        The editorial decision will be communicated to the authors as soon as the review process has been finalised. In case of revisions, the revised article may be sent back to review before a decision is made on acceptance.   The estimated time from manuscript submission to first decision is 4 to 6 weeks and from the final revision to acceptance is approximately 2 weeks. The authors will receive a proof of their article in order to confirm the accuracy of the text prior to publication.   Copyright and Licensing   All articles published in The Journal of Haemophilia Practice are open access. From 2024 onwards, articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International license (CC BY-NC-ND 4.0) which permits use and distribution in any medium provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.   Fees and Funding   The Journal of Haemophilia Practice is owned, managed and funded by Haemnet Ltd.     The journal has no author submission charges. From 1 January 2024, to help cover the publishing costs of the journal, article processing charges (APCs) will be applied to manuscripts accepted for publication. APC waivers are available in some circumstances. Full details can be found in the journal’s Editorial Policies and Publication Ethics.   Plagiarism Policy   We are committed to ensuring that content published in The Journal of Haemophilia Practice is original and trustworthy. All manuscripts submitted to the journal are screened using iThenticate similarity checking software as part of a process that aims to eliminate plagiarism and provide a high standard, quality peer-review process.   For further information on the journal’s editorial policies and publication ethics, please see documentation listed under the ‘For Authors’ tab.   Archiving   Sciendo archives the contents of this journal in Portico, a long-term digital preservation service for scholarly books, journals, and collections. 