Yes, haemophilia affects women too
By Rich Gorman
For far too long, haemophilia has been associated with men. Women have been relegated to being labelled as ‘carriers’ and imagined as being largely unaffected by the condition themselves. As Simon Fletcher describes in his important and fascinating article “‘I didn’t know women could have haemophilia”: a qualitative case study’, this is far from the truth.
Some women with the genetic change that causes haemophilia can have factor levels equivalent to men who have a formal diagnosis of haemophilia. The number of women who experience symptoms is unknown, and many cases go unreported due to haemophilia still being perceived as a ‘male’ condition.
Inequality and lack of understanding
Against the backdrop of this historic inequality and slowly changing understanding, Simon reflects on the experiences of a woman with severe haemophilia A and considers the implications for health care professionals. Simon’s research shows that women with haemophilia can face difficulty in having their condition recognised. Along with its rarity, the prevailing attitude of haemophilia being a male condition means that health care professionals are often reluctant to trust and listen to women about haemophilia. This means that women with haemophilia have to do a lot of extra work, becoming advocates for themselves to ensure they receive quality care. As a man with haemophilia, I regularly have to self-advocate – but I know that if I tell a health care professional I have haemophilia, they usually believe me and act accordingly. To not be able to have that confidence in the healthcare system must be exhausting, not to mention worrying.
A further problem revealed by Simon’s work is that so few (if any) women are included in clinical trials for new haemophilia therapies. The lack of data around how treatments might affect women means that women with haemophilia do not have equal access to new therapies. This is hugely unjust. As people with haemophilia, we are regularly promised that improved treatments are on the horizon. This hope is what keeps many of us going. I can’t imagine how difficult it must be to be a woman with haemophilia and be denied these future prospects.
Community and advocacy
Simon’s research also shows how women with haemophilia don’t always feel part of the haemophilia community. This is a true shame, and something that we, as a community, need to work on. It’s time for us to become more inclusive and to move away from language and terminology that refers to people affected by haemophilia as ‘only a carrier’.
Sex-related diagnostic criteria are rightly under increased scrutiny. Simon refers to a study (also published in The Journal of Haemophilia Practice) of an individual who transitioned from female to male – and, as a result, from a ‘carrier’ to a ‘person with haemophilia’. Simon argues this shows ‘that any diagnosis for haemophilia based purely on sex may no longer be valid or morally and legally defensible’.
Simon concludes with a powerful sentence that feels like it should be on a banner:
“Women should not be penalised for having a second X chromosome
but should be treated according to their level of expressed factor
and the severity of their symptoms.”
Patient advocacy groups have rightly increased their campaigning on this issue in recent years. As Simon’s study reveals, though, there is clearly more work, advocacy, and research to be done.
Further reading
- Fletcher S. “I didn’t know women could have haemophilia”: a qualitative case study. J Haem Pract 2021; 9(1): 85-95. doi: 10.2478/jhp-2022-0011
- Khair K, Pollard D, Steadman L, Jenner K, Chaplin S. The views of women with bleeding disorders: Results from the Cinderella study. Haemophilia 2022; 28(2): 316-325. doi: 10.1111/hae.14514
- Jenner K. Let’s hear it for the girls [blog post]. 8 March 2023.
Animation
- Haemnet. It’s not all about boys: A story of haemophilia (Cinderella Study
About the author
Rich Gorman lives with severe haemophilia A. He works as a researcher at Brighton and Sussex Medical School.
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