A new study demonstrated the impact negative experiences can have on individuals with mild hemophilia or those who carry the gene. The investigators, led by Ilaria Cutica, PhD, at the University of Milan's Department of Oncology and Hematoncology, assessed how the cognitive factors of these individuals related to their reproductive decisions.1
While it might not be widely acknowledged, this population often experiences hemophilia symptoms and bleeds, though many don’t realize the abnormality or risks of mild hemophilia.2
Woman holding pregnancy test | Image credit: JustLife – stock.adobe.com
More research is necessary to fully understand the disease mechanisms in women, but because they are affected in addition to their carrier status, the condition is known as mild hemophilia, Margaret Ragni, MD, MPH, who was not involved in the study, explained in a previous interview with The American Journal of Managed Care®.
“By giving them that name, they're taken more seriously, because physicians believe that bleeding disorders only occur in men [and] cannot occur in women who have to bleed at delivery—and that's part of being a normal woman,” she said. “But the truth is, they have much more severe bleeding than the normal average woman who has menstrual bleeding, who has bleeding at delivery.”
Even without symptoms, this population often has early experiences with family members who have hemophilia, which can be significant. The study found high distress toward hemophilia as a result of negative childhood experiences in this population that led to high concern for their children's health.1
A Chi-square test revealed a significant relationship between the study population’s (N = 54) concern about their own child's health and the type of prenatal test performed (P = .004). Those who were deeply concerned about the potential impact of their carrier status on their children's health were more likely to opt for a prenatal diagnostic test (PND or PGT) instead of a routine pregnancy analysis (RPA).
Additionally, the ANOVA analysis indicated significant differences in prenatal test preferences when assessing the individuals’ rational decision-making style, problem-focused coping strategy, and need for cognitive closure.
The post-hoc analysis revealed those who chose PND had a significantly higher mean value for rational decision-making style compared with those who chose RPA (P = .003). Individuals who opted for PND exhibited a significantly higher mean value for the problem-focused coping strategy compared with those who chose RPA (P = .010).
Furthermore, data showed those who selected RPA had lower scores on the need for cognitive closure compared with those who chose PND (P = .02).
Previous studies examining the experiences of hemophilia carriers in the context of reproductive decision-making and prenatal diagnosis have identified various predictive clinical and situational factors. However, this current study delves deeper into the role played by cognitive and emotional characteristics in this complex decision-making process.
In recent years, there has been a growing interest in understanding the multifaceted decision-making challenges faced by this population when they encounter pregnancy. This is a topic of relevance because the associated emotional burden can impact pregnancy outcomes.
The study results indicated 57% of the individuals chose PND as their preferred option. Investigators observed that those who opted for PND appeared to view their carrier status with a greater concern for their children's health rather than primarily focusing on their own health or having no concern at all, which aligns with previous literature.
This study underscores the emotional burden this process can take and emphasizes the role of cognitive and emotional factors in shaping these decisions. Additionally, the study's findings provide valuable insights into the preferences of this population regarding prenatal diagnostic testing, shedding light on the importance of their past experiences and concerns for their children's well-being in influencing their choices.
1. Cutica, I, Mortarino, M, Garagiola, I, Pravettoni, G, Peyvandi, F. Psychological and cognitive factors involved in decision-making process of haemophilia carriers in reproductive choices. Haemophilia. 2023; 1-7. https://doi.org/10.1111/hae.14836
2. Grossi G. Dr Margaret Ragni sheds light on the necessity of testing hemophilia carriers. AJMC. September 6, 2023. https://www.ajmc.com/view/dr-margaret-ragni-necessity-testing-hemophilia-carriers