Shared decision-making and haemophilia gene therapy
Shared decision-making is a catchy piece of language – and it increasingly feels like it’s everywhere when it comes to haemophilia care! So, what is it all about? Simon Fletcher and his colleagues, Kate Khair and Kathryn Jenner, discuss the details in their paper ‘Shared decision-making for gene therapy in haemophilia care‘, recently published …
Discussing the possibility of being a haemophilia carrier
In a fascinating paper, recently published in The Journal of Haemophilia Practice, Keiko Nozaki and Akemi Yamazaki explore how families manage discussions about their daughters being ‘carriers’ of haemophilia [1]. Although the gene variation that causes haemophilia can be found in both men and women, there has traditionally been little interest in understanding the impact …
Exploring the experience of pain in haemophilia
Pain in haemophilia has become something of a hot topic – these days, any respectable haemophilia conference will include a session about it on the agenda. In a recent review, the WHO estimated the prevalence of unspecified pain in adults aged 25+ years across 52 countries at 27.5%[1]. Women, older persons, and rural residents were …
Developing an educational resource on DDAVP for persons with bleeding disorders
Desmopressin, or DDAVP, plays a crucial role in the treatment of persons with inherited bleeding disorders, including von Willebrand disease, haemophilia A, platelet disorders, and undefined bleeding disorders. It works by enhancing the release of von Willebrand factor and factor VIII (8), which are essential components of the clotting cascade. If you live with an …
Contaminated blood: exploring the intergenerational impact
There is much to say about the contaminated blood scandal of the 1970s and ‘80s. It devastated the bleeding disorders community, leaving a legacy of hurt, injustice and mistrust. With medicines for haemophilia produced through pooling the blood of up to 40,000 donors – many in high-risk groups – prior to routine virus-screening and heat-treating …
Gene therapy for haemophilia B in the UK? Hold your horses!
After years on the track, gene therapy for haemophilia seems to have the home straights firmly in sight. Products for haemophilia A (Roctavian) and haemophilia B (Hemgenix) are licensed in Europe and the United States, and the first commercial doses have now been given. The remaining hurdles, however, are considerable: funding, reimbursement, and commissioning. In …
Animating self-advocacy for the bleeding disorders community
If you live with a bleeding disorder, self-advocacy isn’t just important – it’s vital. As a group of people who live with a bleeding disorder, and have family affected by a bleeding disorder, we think it’s important that everyone in the bleeding disorder community is able to advocate for themselves. But we also understand that …
Improving joint health assessment when resources are limited
A recent paper in The Journal of Haemophilia Practice by Bhabani Sankar Dhal and colleagues describes the importance of regular assessment of joint health in people with haemophilia. Imaging technologies, like MRI scans, ultrasounds and (to a much lesser extent) X-rays, can be useful to identify changes and prevent the progression of joint disease. In …
Reflections from the Glanzmann’s Research Foundation Inaugural Patient Conference
Last week, Kate and I hopped over the pond to attend the Glanzmann’s Research Foundation’s (GRF) first ever educational conference in Boston, USA. The conference was a momentous occasion for the Glanzmann’s community, inspired by the work of Helen Smith. Helen founded the GRF in 2001 following the diagnosis of her daughter Julia with Glanzmann’s …
Hub and spoke – not just about bicycles
Last year, the first gene therapy to treat severe haemophilia A was granted ‘conditional marketing authorisation’ in Europe (basically, fast-track approval for a medicine fulfilling an unmet medical need). It’s against this background that the article ‘The journey of gene therapy in haemophilia – putting the patient at the centre of the hub and spoke model’ …