Glad tidings for haemophilia B patients

<abstract xmlns="http://www.w3.org/1999/xhtml"> Clotting factor replacement therapy has proven a highly effective means of treating haemophilia A and B. But treatment involves frequent and lifelong infusion of factor concentrates and is generally prophylactic rather than curative. It is also extremely expensive, associated with inhibitor formation and does not fully abolish the potential for spontaneous bleeding. Gene therapy offers a potential cure for haemophilia, with the possible continuous expression of a clotting factor gene following the administration of a viral vector carrying the appropriate gene. Recent clinical trials of gene therapy for haemophilia have proven positive in selected patients and new studies are underway.</abstract>

Gene therapy for haemophilia: an update on progress in clinical trials

<abstract xmlns="http://www.w3.org/1999/xhtml"> The investigators behind the first gene therapy trial with adenoassociated virus 8 (AAV8) Factor IX appointed a patient ombudsperson to help ensure participants were able to give truly informed consent. The experiences and challenges of the ombudsperson, who met with the first six UK-based patients, are described. It was stressed to potential participants that altruism, rather than any expectation of clinical benefit, should be the primary motivation to taking part. At the same time a sober assessment of the potential risks to their safety needed to be made.</abstract>

Patient advocacy helps patients weigh up gene therapy trial risk/benefits

<abstract xmlns="http://www.w3.org/1999/xhtml"> The history of haemophilia care has been fraught with extreme successes and epic failures. The development of plasmaderived concentrates made prophylactic treatment and home care possible, but the unintended consequences were devastating for a generation and only abated with the emergence of recombinant products. Now with the arrival of longer-acting factor concentrates and the potential offered by gene therapy, further improvements in medical and social outcomes are possible. But these new treatment approaches raise challenging ethical and moral issues that society must be prepared to confront.</abstract>

The impending medical revolution in haemophilia care: one patient’s view

<abstract xmlns="http://www.w3.org/1999/xhtml"> A 73-year-old woman presented with recent onset significant spontaneous bruising. She also had a recent diagnosis of type 2 diabetes mellitus and was undergoing investigations for biochemical hyperthyroidism. A diagnosis of acquired haemophilia A was confirmed with laboratory testing in addition to thyrotoxic Graves’ disease. She had significant bruising of her left thigh and restricted mobility of the left leg. A significant left vastus lateralis haematoma was diagnosed by ultrasound scan. A course of FEIBA (Factor Eight Inhibitor Bypassing Activity) was commenced and physiotherapy input provided. Kinesio tape was applied to the thigh using a lymphatic drainage technique with the aim of reducing swelling and bruising. Eight days after the initial application of tape, bruising had significantly reduced and her range of movement had returned to normal. This case history demonstrates how kinesio tape may be used as a useful adjunct to standard therapy.</abstract>

Successful use of Kinesio tape to treat an acute muscle haematoma

<abstract xmlns="http://www.w3.org/1999/xhtml"> David Owen was Labour Health Minister 1974-76 and now sits as an independent social democrat in the House of Lords. Before entering Parliament he trained as a medical doctor at St Thomas’s Hospital, London, where he was Clinical Neurologist and Psychiatric Registrar. He has championed the NHS throughout its existence and is now a powerful advocate for its reinstatement to its original purpose. In this extract from his 2014 book The Health of the Nation, NHS in Peril, David Owen sets out the consequences of the 2012 Health and Social Care Act for the haemophilia community.</abstract>

History illustrates the danger that privatisation poses to haemophilia

<abstract xmlns="http://www.w3.org/1999/xhtml"> Assessment of health-related quality of life (HRQoL) in haemophilia is important in order to provide information for clinical decision-making and to verify the impact of haemophilia on patients and their partners. A crosssectional single-centre study was performed to assess the health-related quality of life (HRQoL) and burden of the disease on partners of adult patients with haemophilia. Self-reported outcomes were completed by partners and patients (SF-36, VAS of Interference); partners also completed the Caregivers’ Burden Scale. A total of 108 of 150 eligible partners of adults with haemophilia (72%) participated. Mean age for partners was 44.7 years (range 20-79) and for patients 47.1 years (range 20-81). The majority of couples were married (65.7%). Couples reported being together a mean of 19.8 years and had, on average, 1.7 children. Partners of haemophilia patients across all severities reported lower HRQoL in the ‘emotional role’ domain of SF-36 (P=&lt;0.041), with highest impairments observed among partners of moderately affected patients. Partners reported significantly less interference with daily life compared to patients (P&lt;0.001). In general, partners reported low burden of haemophilia in the Caregivers’ Burden Scale; ‘emotional involvement’ was the greatest burden in the mild and moderate group; while in the severe group ‘general strain’ was the greatest burden. Partners of severe haemophilia patients on prophylaxis reported, in general, good HRQoL and low burden of the disease. Partners of moderate patients reported decreased HRQoL and higher burden. Our findings may be of importance for the care of the ageing person with haemophilia (PWH).</abstract>

Health-related quality of life of partners of adults with haemophilia

<abstract xmlns="http://www.w3.org/1999/xhtml"> Disparities in haemophilia care between developed and developing countries persist despite the best efforts of the World Federation of Hemophilia (WFH). With limited availability of and access to coagulation factor concentrates in developing countries, people with haemophilia (PWH) are frequently left prone to lifethreatening bleeds. The experiences that sub- Saharan African mothers face raising a child with haemophilia are challenging. This study explores the difficulties faced by those who have moved to the United Kingdom, as well as their experiences in their countries of origin. Interviews were carried out with four mothers of children diagnosed with severe haemophilia A from Cameroon, the Democratic Republic of Congo, Nigeria and Somalia. Each of these mothers had the same experience of limited or no access to haemophilia care in their countries of origin. On moving to the UK, they experienced feelings of guilt about their ability to access treatment for their sons while others in their families are unable to access treatment. Awareness has been raised by these women and shared with African communities in the UK. In addition, two mothers have engaged in active fundraising in an attempt to establish haemophilia care in their home countries. This adds further to their need for support.</abstract>

African mothers: Raising boys with haemophilia in the UK

<abstract xmlns="http://www.w3.org/1999/xhtml"> At some stage or other, most haemophilia nurses will be faced with the pregnancy of an obligate carrier. As Trish Bell recounts, this can make for a difficult conversation and sleepless nights.</abstract>

A challenging chat

AHEAD OF PRINT

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

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

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

Volume 8 (2021): Issue 1 (January 2021)

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

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

Volume 6 (2019): Issue 1 (January 2019)

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. 

The Journal of Haemophilia Practice

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

Editorial

Glad tidings for haemophilia B patients

Gene Therapy

Gene therapy for haemophilia: an update on progress in clinical trials

Patient advocacy helps patients weigh up gene therapy trial risk/benefits

The impending medical revolution in haemophilia care: one patient’s view

Case Study

Successful use of Kinesio tape to treat an acute muscle haematoma

In Perspective

History illustrates the danger that privatisation poses to haemophilia

Clinical Research

Health-related quality of life of partners of adults with haemophilia

African mothers: Raising boys with haemophilia in the UK

Poet's Corner

A challenging chat

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