Discussing the possibility of being a haemophilia carrier
By Rich Gorman
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 this has on women. The Journal of Haemophilia Practice has pioneered work that challenges perceptions of haemophilia only being associated with men [2,3], showing how many ‘carriers’ of haemophilia can have factor levels equivalent to men who have a formal diagnosis of haemophilia, and experience bleeding symptoms that go beyond being ‘only a carrier’.
Keiko and Akemi ground their research in this approach, noting the increasing clinical interest in recognising ‘carriers’ as individuals who will potentially require haemophilia-related healthcare. However, they note that broadly, there is little support available for those regarded as ‘carriers’.
Parental support needs
In their report, Keiko and Akemi note that in Japan only around 50% of parents inform their daughters that they may be carriers of haemophilia (and thus, potentially symptomatic). There are a range of reasons for this, including lack of knowledge and anxiety about how it will affect their daughters. Some parents also want to protect their daughters from the psychological burden that can come from having knowledge of ‘genetic risks’.
Discussing issues of heredity can be highly stigmatised, requiring cultural and emotional sensitivity. However, as Keiko and Akemi note, insufficient discussion and knowledge about genetic conditions and risk can also cause major stress and negative feelings within families.
The authors suspected that by identifying the strategies used by parents who do talk openly about the possibility of haemophilia with their daughters, they might be able to create resources to support those who struggle to have these conversations.
Reluctance, challenges and guilt
Using in-depth interviews, Keiko and Akemi found that there are gendered differences in how parents discuss possible links to haemophilia with their daughters. Fathers were more reluctant to broach the topic and felt challenged when it came to being involved in discussions around how haemophilia impacts menstrual bleeding. When it came to the different and additional bleeding symptoms many women affected by haemophilia experience, the burden of discussions and disclosure was often left to mothers. Keiko and Akemi note that since all daughters of men with haemophilia will inherit the gene variation that causes haemophilia, there may be a need to develop specific psychosocial support for these fathers and complementary support for couples.
The authors noted that a feeling of ‘guilt’ structures many conversations about the inheritance of haemophilia status. Particularly, many parents struggled with thinking about their daughters becoming parents themselves and replicating the same discussions many years later with their own children. This is an important barrier for families to overcome, and support from healthcare professionals and patient groups is vital here.
Proactive and positive approaches
In terms of the strategies used to share information, many parents recalled stockpiling information about haemophilia to share with their daughters when they were older – though they were often anxious about identifying when was the ‘right’ time to begin discussions. Others proactively involved their daughters in patient groups and visits to the hospital, so that they developed their own independent awareness of haemophilia. Enabling them to become informed about the advances being made in haemophilia treatment and providing opportunities to meet other families affected by the condition were seen as particularly important.
Parents reported that when they did discuss haemophilia with their daughters, they adopted a positive approach in how they portrayed it, avoiding a focus on the negatives while also trying to create an open dialogue and destigmatise discussions about bleeding. Keiko and Akemi note this is vital in supporting women with haemophilia to be prepared for potentially having their own affected children.
Opening up the conversation
This is a great study that opens a lot of questions and areas for further work. Within the haemophilia community we need more open conversations about the impact of the condition on women and girls. By doing this, we can ensure that we are supporting everyone affected by haemophilia to have access to quality, equitable, and inclusive care.
References
1. Nozaki K, Yamazaki A. The strategies of parents who tell their daughters about the possibility of being a haemophilia carrier. J Haem Pract 10(1): 39-47. doi: 10.2478/jhp-2023-0008
2. Fletcher S. “I didn’t know women could have haemophilia”: A qualitative case study. J Haem Pract 2022; 9(1): 85-95. doi: 10.2478/jhp-2022-0011
3. Chaplin S, Khair K. “You’re only a carrier” – Women and the language of haemophilia. J Haem Pract 2021; 8(1): 128-132. doi: 10.2478/jhp-2021-0015
Further reading
Gorman R. Yes, haemophilia affects women too. Haemnet blog, 8 March 2023
Jenner K. It’s not all about boys. Haemnet blog, 3 February 2022
Chaplin S. Changing the language of haemophilia. Haemnet blog, 17 November 2021
About the author
Rich Gorman lives with severe haemophilia A. He works as a researcher at Brighton and Sussex Medical School.
To find out more about The Journal of Haemophilia Practice or publishing with Haemnet, email us at publishing@haemnet.com
Image: Shutterstock/miya227