Lessons from a qualitative study of treatment experiences and perceptions in people with haemophilia in France

Sabine-Marie Castet; Lola Sepot-Boucherit; Nicolas Beranger; Stephanie Delienne; Valérie Chamouard

doi:10.2478/jhp-2025-0006

Abstract

Abstract Introduction

Haemophilia A and B (HA/HB) are congenital, X-linked recessive bleeding disorders caused by deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. People with haemophilia (PwH) have increased risk of spontaneous or traumatic bleeding in joints, muscles, or soft tissues, which can be severe in people with HA/HB with inhibitors (HAwI/HBwI). Despite advances in haemophilia treatment, there are remaining and emerging unmet needs in PwH.

Aims

This study explored emerging unmet needs in PwH in France, with a focus on treatment burden, by investigating patient perspectives using ethnographic interviews.

Methods

PwH were screened to encompass diverse characteristics including treatment and haemophilia types. Ethnographic, semi-structured interviews were conducted using open-ended questions on topics such as identity and social perception, treatment history and routines around managing haemophilia. Patient responses were coded to identify core themes.

Results

PwH (N=13 [HAwI: n=6; HB: n=7]) from France evaluated their treatment (emicizumab [n=4] or various factor replacement therapies [n=9]) primarily based on three emerging themes from the interviews: perceived efficiency, autonomy, and normalcy. Understanding of a treatment’s mechanism of action was linked to their perception of efficiency. In terms of autonomy, administering treatment independently from healthcare system structures, and treatment accessibility and storage were highlighted as key. The need to feel normal without the stigma associated with treatment administration, was ranked as the highest aspirational treatment need among PwH compared with the other themes.

Conclusion

These findings support the need for targeted and personalised treatment approaches in haemophilia care.

Article

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References

1. Berntorp E, Fischer K, Hart DP, et al. Haemophilia. Nat Rev Dis Primers 2021; 7(1): 45. doi: https://doi.org/10.1038/s41572-021-00278-x.
2. Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet 2003; 361(9371): 1801–1809. doi: https://doi.org/10.1016/S0140-6736(03)13405-8.
3. Morfini M, Haya S, Tagariello G, et al. European study on orthopaedic status of haemophilia patients with inhibitors. Haemophilia 2007; 13(5): 606–612. doi: https://doi.org/10.1111/j.1365-2516.2007.01518.x.
4. Gringeri A, Mantovani LG, Scalone L, Mannucci PM. Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS Study Group. Blood 2003; 102(7): 2358–2363. doi: https://doi.org/10.1182/blood-2003-03-0941.
5. Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia 2020; 26: 1–158. doi: https://doi.org/10.1111/hae.14046.
6. Morfini M, Zanon E. Emerging drugs for the treatment of hemophilia A and B. Expert Opin Emerg Dr 2016; 21(3): 301–313. doi: https://doi.org/10.1080/14728214.2016.1220536.
7. Blair HA. Emicizumab: a review in haemophilia A. Drugs 2019; 79(15): 1697–1707. doi: https://doi.org/10.1007/s40265-019-01200-2.
8. Chamouard V, Freyssenge J, Duport G, et al. Evaluation of the care pathway in the context of the dispensing of emicizumab (Hemlibra) in community and hospital pharmacies in France: A patient satisfaction survey. Haemophilia 2023; 29(6): 1490–1498. doi: https://doi.org/10.1111/hae.14857.
9. Hermans C, Makris M. Disruptive technology and hemophilia care: The multiple impacts of emicizumab. Res Pract Thromb Haemost 2021; 5(4): e12508. doi: https://doi.org/10.1002/rth2.12508.
10. Thornburg CD, Duncan NA. Treatment adherence in hemophilia. Patient Prefer Adherence 2017: 11: 1677–1686. doi: https://doi.org/10.2147/PPA.S139851.
11. Vidal. Hemophilia A: Hemlibra available in the city. 2021. Available from https://www.vidal.fr/actualites/27284-hemophilie-a-mise-a-disposition-en-ville-d-hemlibra.html (accessed March 2024).
12. Chamouard V, Fraticelli L, Freyssenge J, et al. Phareo study: Perceived and observed accessibility to therapeutic drugs used for treating patients with inherited bleeding disorders. J Clin Pharm Ther 2022; 47(10): 1667–1675. doi: https://doi.org/10.1111/jcpt.13718.
13. Leroy V, Freyssenge J, Renard F, Tazarourte K, Négrier C, Chamouard V. Access to treatment among persons with hemophilia: a spatial analysis assessment in the Rhone-Alpes region, France. J Am Pharm Assoc 2019; 59(6): 797–803. doi: https://doi.org/10.1016/j.japh.2019.07.006.
14. Frybourg S, Remuzat C, Kornfeld Å, Toumi M. Conflict of interest in Health Technology Assessment decisions: case law in France and impact on reimbursement decisions. J Mark Access Health Policy 2015; 3(1): 25682. doi: https://doi.org/10.3402/jmahp.v3.25682.
15. Savage J. Ethnography and health care. Br Med J 2000; 321(7273): 1400–1402. doi: https://doi.org/10.1136/bmj.321.7273.1400.
16. Strudwick RM. Ethnographic research in healthcare – patients and service users as participants. Disabil Rehabil 2021; 43(22): 3271–3275. doi: https://doi.org/10.1080/09638288.2020.1741695.
17. Grain Intelligence Inc. Grain. 2023. Available from https://grain.com/ (accessed 2023).
18. QSR International. NVIVO. Version 14, 2023. Available from https://help-nv.qsrinternational.com/14/win/Content/about-nvivo/about-nvivo.htm (accessed April 2023).
19. Hughes T, Brok-Kristensen M, Gargeya Y, et al. Navigating uncertainty: an examination of how people with haemophilia understand and cope with uncertainty in protection in an ethnographic study. J Haem Pract 2020; 7(1): 158–164. doi: https://doi.org/10.17225/jhp00168.
20. Hughes T, Brok-Kristensen M, Gargeya Y, et al. “What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia. J Haem Pract 2020; 7(1): 25–36. doi: https://doi.org/10.17225/jhp00151.
21. Tischer B, Marino R, Napolitano M. Patient preferences in the treatment of hemophilia A: impact of storage conditions on product choice. Patient Prefer Adherence 2018; 12: 431–441. doi: https://doi.org/10.2147/PPA.S151812.
22. Fornari A, Antonazzo IC, Rocino A, et al. The psychosocial impact of haemophilia from patients’ and caregivers’ point of view: The results of an Italian survey. Haemophilia 2024; 30(2): 449–462. doi: https://doi.org/10.1111/hae.14926.
23. Wiley RE, Khoury CP, Snihur AW, et al. From the voices of people with haemophilia A and their caregivers: challenges with current treatment, their impact on quality of life and desired improvements in future therapies. Haemophilia 2019; 25(3): 433–440. doi: https://doi.org/10.1111/hae.13754.
24. Garcia VC, Mansfield C, Pierce A, Leach C, Smith JC, Afonso M. Patient and caregiver preferences for haemophilia treatments: A discrete-choice experiment. Haemophilia 2024; 30(2): 375–387. doi: https://doi.org/10.1111/hae.14928.
25. von der Lippe C, Frich JC, Harris A, Solbrække KN. Treatment of hemophilia: a qualitative study of mothers’ perspectives. Pediatric Blood Cancer 2017; 64(1): 121–127. doi: https://doi.org/10.1002/pbc.26167.
26. Ballmann J, Ewers M. Nurse-led education of people with bleeding disorders and their caregivers: A scoping review. Haemophilia 2022; 28(6): e153–e163. doi: https://doi.org/10.1111/hae.14629.
27. Schrijvers L, Bedford M, Elfvinge P, Andritschke K, Leenders B, Harrington C. The role of the European haemophilia nurse. J Haem Pract 2014; 1(1): 24–27. doi: https://doi.org/10.17225/jhp.00008.
28. Hermans C, Pierce GF. Towards achieving a haemophilia-free mind. Haemophilia 2023; 29(4): 951–953. doi: https://doi.org/10.1111/hae.14807.
29. Hughes T, Brok-Kristensen M, Gargeya Y, et al. “He’s a normal kid now”: an ethnographic study of challenges and possibilities in a new era of haemophilia care. J Haem Pract 2020; 7(1): 150–157. doi: https://doi.org/10.17225/jhp00167.
30. Mannucci P. AIDS, hepatitis and hemophilia in the 1980s: memoirs from an insider. J Thromb Haemost 2003; 1(10): 2065–2069. doi: https://doi.org/10.1046/j.1538-7836.2003.00483.x.
31. Potì S, Palareti L, Emiliani F, Rodorigo G, Valdrè L. The subjective experience of living with haemophilia in the transition from early adolescence to young adulthood: the effect of age and the therapeutic regimen. Int J Adolesc Youth 2018; 23(2): 133–144. doi: https://doi.org/10.1080/02673843.2017.1299017.
32. duTreil S. Physical and psychosocial challenges in adult hemophilia patients with inhibitors. J Blood Med 2014: 5: 115–122. doi: https://doi.org/10.2147/JBM.S63265.
33. Recht M, Konkle B, Jackson S, Neufeld E, Rockwood K, Pipe S. Recognizing the need for personalization of haemophilia patient-reported outcomes in the prophylaxis era. Haemophilia 2016; 22(6): 825–832. doi: https://doi.org/10.1111/hae.13066.
34. Krumb E, Hermans C. Living with a “hemophilia-free mind” – The new ambition of hemophilia care? Res Pract Thromb Haemost 2021; 5(5): e12567. doi: https://doi.org/10.1002/rth2.12567.
35. Forsyth A, Gregory M, Nugent D, et al. Haemophilia Experiences, Results and Opportunities (HERO) Study: survey methodology and population demographics. Haemophilia 2014; 20(1): 44–51. doi: https://doi.org/10.1111/hae.12239.
36. Goodson L, Vassar M. An overview of ethnography in healthcare and medical education research. J Educ Eval Health Prof 2011; 8: 4. doi: https://doi.org/10.3352/jeehp.2011.8.4.

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Authors

Sabine-Marie Castet

sabine-marie.castet@chu-bordeaux.fr

Haemophilia Treatment Centre (CRC MHC), Bordeaux Pellegrin University Hospital, Bordeaux, France .
Lola Sepot-Boucherit

Rare Disease, Novo Nordisk, Paris, France
Nicolas Beranger

Rare Disease, Novo Nordisk, Paris, France
Stephanie Delienne

Dijon Haemophilia Treatment Centre, French Federation of Haemophilia and Haemorrhagic Diseases Nurses (FIDEL’HEM), Dijon, France
Valérie Chamouard

French Reference Centre on Haemophilia, Haemophilia Centre, Hospices Civils de Lyon, University Hospital of Lyon 1, Lyon, France