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.
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.
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.
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.
Sylvia von Mackensen, Karin Lindvall, Sölve Elmståhl and Erik Berntorp
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=<0.041), with highest impairments observed among partners of moderately affected patients. Partners reported significantly less interference with daily life compared to patients (P<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).
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.
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.
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.