Exploring the psychosocial status and lived experiences of haemophilia carriers: a comprehensive mixed methods study

Lived experience refers to the expression of HCs’ feelings in response to the research question and was assessed by a semi-structured interview schedule (Appendix), interpreted through thematic analysis.

Data was integrated by linking the qualitative data to the quantitative results. Combining the data provided a broader and more comprehensive view of the participants’ responses and the research question. The point of integration was done at the quantitative and qualitative results; a joint display matrix is shown in Table 4 ^{[15, 16]}. Thematic analysis was then used to identify themes which emerged from the data within the categories. Two researchers (DS, VLR) coded the data into the framework separately. Four researchers (SB, DS, LS, VLR) compared the findings and came to a consensus on any discrepancies which did not demonstrate a significant difference.

We used descriptive statistics to analyse responses and respondent characteristics, summarising data as proportions with binomial 95% CIs. Qualitative data analysis was performed using Jamovi version 2.3.21 (R platform).

Seventy-two HCs participated in the study (Table 1). Thirty-four participants (47.2%) were aged between 31 and 40 years, 33 (45.8%) had a family history of haemophilia, 66 (91.6%) had one child with haemophilia. Twenty-eight (38.8%) had a school education; the majority (n=−55; 76.3%) were unemployed; 91.6% (n=66) had a yearly income of less than INR 2,00,000, (USD 2,413).

Twenty-nine (40.2%) HCs used one or more (permanent or temporary) birth control measures of whom 29 (40.2%) favoured tubectomy. Most HCS (n=42; 58.3%) reported abnormal bleeding symptoms. Twelve (28.5%) reported at least two bleeding symptoms, including heavy menstrual bleeding and ecchymotic patches; five had a BAT score of >5 and required blood transfusion, and one underwent hysterectomy post-delivery.

None of the participants had undergone evaluations of clotting factor levels of FVIII or FIX.

Eighty children of HCs were reported in the study (Table 2). Thirty-nine (48.7%) HCs had children aged under 13 years; 38 (47.2%) children were in pre-university level education. The majority of children (n= 62; 77.5%) had haemophilia A, 18 of whom (60%) had a severe form. Forty-nine (61.2%) visited the treatment centre less than five times a year; the primary reason for their visits was minor bleeding (n=63; 78.7%).

To explore the psychosocial aspects of the study participants, 65 participants were considered for further exploratory analysis. Based on age at diagnosis and the current age of the people with haemophilia (PWH) evaluated in the study, seven were excluded as outliers. This ensured homogeneity in the study population.

Based on inferential analysis of the data obtained from participants, it is pertinent to note that there was no relationship between stress and the coping strategies (r=−0.13, p=0.303) used by them. Furthermore, there was a poor relationship between coping strategies and social support, which was not statistically significant (r=0.206, p=0.099). A similar phenomenon was observed in the context of stress and social support (r=0.216, p=0.084). However, the study revealed a stronger level of social support for HCs and families who had been dealing with haemophilia for a longer duration (r=0.265, p=0.033), indicating an enriched social network, and also underscoring that the level of social support is not determined solely by age. Demographics of the interviewed participants are shown in Table 3; a joint display of results from the integrated quantitative and qualitative study is in the Appendix (Table 4).

Participants had accepted a variety of changes in their daily lives due to their child being diagnosed with haemophilia and their need for lifelong treatment for bleeding episodes. Participants were aware of the support offered through the Indian patient organisation (Hemophilia Federation) and found this to be valuable, continuous and available at all time points. HCs demonstrated their confidence by being able to manage their child.

In their journey of acceptance of haemophilia, some individuals (n=4) had ‘given up’ due to the limits of daily life and the burden of modifying health behaviours.

HCs reported that social support from various people in their lives (husband, relatives, teachers, friends, patient organisation) helped them to cope, acting as an intervention in awareness, self-esteem, guilt, and grief. They also stated that someone was concerned about their feelings, and they were shown positive regard. Social support in various forms aided HCs (n=12) through showing that they are valued and that there is someone to cry on.

Financial security is an important aspect of chronic disease management. When participants had a child with haemophilia and this became a financial burden, they felt a desire to support their partner financially but felt helpless and needed to take special care of their child.

“Now I must take care of my child hence I cannot go to work.”

Family history is an important risk factor in haemophilia, and it is critical to document the diagnosis of rare genetic disorders with clear patterns of inheritance. Some participants admitted that they were unaware of their family history of haemophilia and would have taken precautions if they had known sooner (n=4).

“I was so disappointed when my younger sister died from excessive bleeding after delivery, and my brother had similar symptoms where I was unaware of the disease. When I was young, I used to see similar bleeding symptoms in my father, and he died from bleeding.”

When it came to reproductive decisions, HCs lacked reproductive autonomy and were under pressure from their families to have a second child. All 14 participants had a first child with haemophilia.

When it came to personal choices, participants said they would prefer to have a child without haemophilia (n=9). Most did not have reproductive autonomy, but two decided not to have further children, and six underwent tubectomy:

“I don’t want one more child to suffer and face difficulties.”

When a child with haemophilia has a sibling, the burden becomes more visible, making it difficult to care for the unaffected children due to the increased importance placed on the affected child. This may lead to sibling rivalry. Additionally, the burden imposed by functional limitations in a child with haemophilia frequently causes mothers to overwork and quality of life is affected.

Our study had some limitations. The sample size estimated for quantitative data collection was not reached due to factors related to the COVID pandemic, including restrictions on to travel to households. The study was conducted from one HTC and results may not be generalisable to other centres.

Based on the findings of this study, it is evident that tailored support programmes are essential to address the psychosocial challenges faced by HCs. A comprehensive approach to care—integrating medical, psychological, and social support—is paramount for effective management. This can be achieved through a holistic strategy that includes targeted interventions to address emotional challenges, alongside genetic education and counselling, enabling carriers to make informed decisions. Additionally, collaborative efforts, such as joint educational programming between clinical care teams and patient advocacy organisations, could enhance awareness, support, and management strategies for individuals and families affected by haemophilia. By incorporating these strategies into clinical practice, healthcare providers can optimise the wellbeing of HCs and their families, promote holistic care, and improve overall health outcomes.