Volume 13 (2026): Issue 1

The Paradox of 'Non-Severe' Haemophilia: Qualitative Analysis of Treatment Disparities and Quality of Life Impacts from the Learning to Live Study

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Simon Fletcher ORCID iD
Kathryn Jenner ORCID iD
Kate Khair ORCID iD

Abstract

Background
Non-factor replacement therapies and gene therapy for severe haemophilia convert the bleeding phenotype to mild or moderate. People with haemophilia (PwH) who transition to a milder phenotype as a result of their treatment may require a greater degree of ongoing care and support than those with genetically mild or moderate haemophilia, due to previous bleeding episodes. Assessing the subjective experiences of PwH with genetically mild or moderate haemophilia compared to those converted to a milder phenotype enables a comparison of expectations across the spectrum of the disease. Understanding the lived experience of genetically mild and moderate haemophilia can therefore inform the anticipated care needs of the growing group whose treatment converts a severe phenotype to a non-severe one.

Methods
Qualitative interviews were undertaken as part of a mixed-methods study examining the lived experience of non-severe haemophilia. Forty-four men with haemophilia (15 mild, 10 moderate, 11 severe, 8 post-gene therapy) aged 16-76 years were interviewed between January and August 2023. Interviews were recorded, transcribed, and thematically analysed using NVivo software, with cross-validation by two researchers. Analysis followed a grounded theory-informed approach.

Results
Five main themes emerged within the overarching theme of Ability vs. Disability: 1) Acceptance vs. Rejection, 2) Benefits vs. Burdens, 3) Control vs. Uncertainty, 4) Freedom vs. Constraint, 5) The Future vs. the Past. Participants with genetically non-severe haemophilia reported significant treatment disparities compared to those with severe haemophilia, including delayed diagnosis, inability to self-treat, and limited access to prophylaxis. Despite higher factor levels, individuals with non-severe haemophilia and those who had transitioned to a non-severe phenotype experienced similar issues with regard to bleeding episodes. Paradoxically, while participants reported their condition did not significantly impact daily life, they described constant background concerns about injuries and activity limitations.

Conclusions 
PwH of all severities experience similar quality of life impacts, particularly during bleeding episodes. Treatment disparities must be addressed to improve outcomes for those with non-severe haemophilia, including individuals on phenotype-altering treatments. Recommendations include facilitating self-infusion and home treatment for all severity levels, ensuring rapid access to bleed assessment and follow-up regardless of primary diagnosis, and addressing the mixed messaging from healthcare teams regarding activity restrictions and treatment protocols.

Plain Language Summary

Treatments for severe haemophilia now include nonfactor therapies and gene therapy. These treatments effectively change severe haemophilia to moderate or mild haemophilia. People with moderate or mild haemophilia usually only have bleeds after trauma or surgery. However, people with severe haemophilia who use treatments that convert their haemophilia to moderate or mild may have joint damage from previous spontaneous bleeds into their joints, meaning they may need more care and support. We wanted to understand and compare the experiences of people who have always lived with moderate or mild haemophilia with the experiences of people with severe haemophilia who effectively have moderate or mild haemophilia due to their treatment. This will help us better understand the impacts of moderate or mild haemophilia on quality of life, which in turn can help inform future care. Access to haemophilia care and to newer treatments varies widely around the world; this study reflects the experiences of people treated in the UK.


175 men with haemophilia of all severities responded to a questionnaire about their experiences, 44 of whom then participated in an in-depth interview. In the interviews, they spoke about the impact of haemophilia on their everyday lives, and their experiences of and thoughts about their treatment and care. Interviewees with severe haemophilia commented on improvements in treatment, but those who had always lived with moderate or mild haemophilia were less aware of treatment developments and often felt ‘left behind’ in terms of care.


Overall, we found that haemophilia had similar impacts on the quality of life of all interviewees, regardless of their haemophilia severity. All groups reported problems in recognising bleeds or having bleeds recognised by their care teams, and people with mild or moderate haemophilia often experienced difficulties because they were often not offered the training or support to treat their own bleeds at home. The study findings suggest that the impacts of moderate and mild haemophilia are under-recognised. Enabling people with moderate or mild haemophilia to administer their own treatment for bleeds and taking steps to ensure that bleeds are diagnosed more quickly are among the measures that could be taken to help improve this.

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