Authors
Tomie Fujii, Teruhisa Fujii, Teiji Uchino
Published in
Haemophilia : the official journal of the World Federation of Hemophilia. Oct 10, 2026. Epub Oct 10, 2026.
Abstract
Haemophilia carriers (HCs) have historically been regarded as asymptomatic or only mildly affected, resulting in under-recognition of bleeding symptoms and unmet healthcare needs. Although advances in healthcare and access to information have changed the experience of haemophilia, little is known about how illness-related uncertainty differs across generations. Guided by Mishel's Uncertainty in Illness Theory, this study compared illness-related uncertainty between a younger generation of HCs and a previously studied maternal cohort.
Semi-structured interviews were conducted with nine female HCs who were adolescents and adults (17-39 years). Data were analysed thematically, and themes were deductively mapped onto Mishel's uncertainty in illness theory. The findings were conceptually compared with previously published qualitative data from 20 mothers whose daughters were haemophilia carriers. The mothers were aged 32-63 years and were interviewed in 2017.
Younger HCs had greater access to haemophilia-related information, specialist care, and patient organizations than the maternal cohort, enabling greater understanding of bleeding symptoms and genetic risk. Greater knowledge did not eliminate uncertainty but shifted its focus to disclosure to partners, reproductive decision-making, and future caregiving responsibilities. In contrast, uncertainty in the maternal cohort centred on limited awareness of carrier status, reproductive experiences, and sociocultural expectations surrounding caregiving.
Illness-related uncertainty in HCs changed rather than simply diminished across generations. Support for HCs should combine medical information, emotional support, and shared decision-making tailored to the life stage and sociocultural context.
Haemophilia is an inherited bleeding disorder that mainly affects boys and men, but girls and women who carry the haemophilia gene may also experience bleeding symptoms and concerns related to inheritance. Healthcare and access to information about haemophilia have improved considerably over time, but little is known about whether these changes have affected the concerns experienced by haemophilia carriers across generations. We interviewed nine female haemophilia carriers aged 17-39 years and compared their experiences with previously published findings from 20 mothers whose daughters were haemophilia carriers. The mothers were interviewed in 2017. Compared with the previously published findings, younger carriers had greater access to information, specialist healthcare, patient organizations, and family support, which helped them better understand bleeding symptoms and the possibility of passing haemophilia on to their children. However, greater knowledge did not simply remove uncertainty. Instead, younger carriers began to consider possible future challenges earlier in life, including when and how to tell a partner about haemophilia, decisions about pregnancy and having children, and the possibility of caring for a child with haemophilia. In contrast, women in the older group often experienced uncertainty after pregnancy or childbirth, when haemophilia became directly relevant to their lives. These findings suggest that uncertainty has changed across generations rather than disappeared. Therefore, support for haemophilia carriers should provide not only clear medical information but also emotional support and help with decisions about relationships, pregnancy, and family life at different stages of life.
PMID:
42856008
Bibliographic data and abstract were imported from PubMed on 10 Oct 2026.
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