Hemophilia carriers face changing worries across generations, study finds

A small study in Japan suggests that younger women identified as hemophilia carriers have greater access to information and specialized care than women in an earlier generation, but still face uncertainty about how the condition may affect their lives.

The nature and timing of those concerns appeared to differ between generations. Mothers interviewed for an earlier study often described uncertainty surrounding pregnancy and childbirth, while the younger women more often expressed concerns about future relationships, reproductive decisions and caregiving responsibilities.

Their worries included when and how to tell a partner about hemophilia, whether to have children, and what raising a child with the condition might involve.

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“These findings suggest that uncertainty has changed across generations rather than disappeared,” the researchers wrote. “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.”

The study, “Generational Differences in Illness-Related Uncertainty Among Haemophilia Carriers: A Qualitative Study Using Mishel’s Uncertainty in Illness Theory,” was published in Haemophilia.

In most cases, hemophilia is caused by mutations in genes that provide instructions for making certain blood-clotting proteins. In the two main inherited types, these proteins are factor VIII in hemophilia A and factor IX in hemophilia B. Both genes are located on the X chromosome, one of the two sex-determining chromosomes.

Because men typically have only one X chromosome, a disease-causing mutation on that chromosome can lead to hemophilia. Women, who typically have two X chromosomes, are more often carriers if they have a functional copy of the gene on their other X chromosome.

“Consequently, haemophilia carriers (HCs) were long regarded as asymptomatic or only mildly affected, contributing to under-recognition of bleeding symptoms, delayed recognition of their healthcare needs, and limited access to appropriate care,” the researchers wrote.

However, growing evidence shows that hemophilia carriers can experience a wide range of bleeding symptoms that affect daily life, including heavy menstrual periods, prolonged bleeding after surgery, and excessive bleeding during childbirth.

“Although advances in healthcare and improved access to haemophilia-related information have transformed the management of haemophilia, they may also affect when and how illness-related uncertainty is experienced,” the team wrote. The researchers noted that “little is known” about how this uncertainty differs across generations.

Researchers compare uncertainty across generations

To explore these differences, researchers in Japan used Mishel’s Uncertainty in Illness Theory (UIT). This framework examines how people experience uncertainty about their health, based on factors such as their personal experiences, understanding of a condition, and access to information and support.

Between July and November 2023, the team interviewed nine women, ages 17–39, who were known or possible hemophilia carriers. They asked about bleeding symptoms, understanding of hemophilia and its inheritance, relationships, reproductive decisions, and sources of support.

The researchers compared these accounts with findings from an earlier study involving 20 mothers, ages 32–63, whose daughters were hemophilia carriers. The mothers were interviewed in 2017, but their carrier status was not established in every case.

The younger women showed a greater understanding of hemophilia and how it is inherited than the mothers in the earlier study. They also described learning to recognize symptoms such as heavy menstrual bleeding or prolonged bleeding in the context of hemophilia, rather than as isolated events.

Greater awareness, however, did not eliminate uncertainty. Younger women worried about when and how to tell a partner about hemophilia, whether to have children, the possibility of passing hemophilia on to their children, and what raising a child with hemophilia might involve. These concerns often arose before marriage, pregnancy, or parenthood.

In contrast, uncertainty among the mothers in the earlier study tended to emerge later, often during pregnancy or after childbirth, when hemophilia became directly relevant to their lives. Many had limited information beforehand and had to make sense of hemophilia within their families while facing decisions about childbirth and caregiving.

The findings suggest that uncertainty has shifted from responding to unexpected experiences to anticipating future challenges.

Sources of support differ across generations

The groups also differed in where they turned for support. Younger carriers received guidance from hemophilia specialists, patient organizations, and family members. Parents often provided emotional and practical support during adolescence, while specialists became more important as women approached marriage and having children.

Mothers in the earlier study, meanwhile, reported more limited access to specialist care and information. They often relied on family members for information and support, and many hoped their daughters would have access to resources they themselves had lacked.

“Greater access to haemophilia-related knowledge and healthcare does not eliminate illness-related uncertainty among HCs,” the researchers wrote. “Rather, this access changes when and how uncertainty is experienced, shifting its focus towards future relationships, reproductive decision-making, and family roles.”

The researchers cautioned that the study was small and compared two independently recruited groups. They also noted that participants likely had better access to hemophilia information and specialist care than carriers in the general population. This may limit how broadly the findings apply.

The researchers concluded, “These findings support the usefulness of Mishel’s UIT for understanding illness-related uncertainty across generations and highlight the importance of counselling, emotional support, and shared decision-making that respond to the evolving needs of HCs throughout their life course.”