A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy

Punt, Marieke C; Teela, Lorynn; Fischer, Kathelijn; Bloemenkamp, Kitty W. M.; Lely, A. Titia; Driessens, M. H. E.; Pekel, Lynnda; Haverman, Lotte; Galen, Karin P M van

doi:10.1111/hae.14396

Cited by 7 publications

(12 citation statements)

References 31 publications

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“…An additional weakness is the absence of demographic and bleeding related data on the carrier participants (e.g., ethnicity, bleeding score, factor levels), which would shed insight into whether the views expressed are unique to specific subset of carriers. Although the number of hemophilia carrier participants in focus groups was small (11 carriers in two groups), this sample size is in line with other similar qualitative studies that had 11–15 participants 16,22 . Similarly, our study design of in‐depth qualitative work via focus groups, supplemented by questionnaires for both carriers and health care providers, has been used in many similar studies 14,15,22,26 .…”

Section: Strengths and Limitationssupporting

confidence: 57%

“…22,25,26 It is important to recognize the diversity of ways hemophilia affects women and acknowledge the impact an individuals' experience will have on their attitudes and beliefs, particularly those related to testing. 22,25 A challenge in interpreting our results is that most of our participants reported experiencing a number of bleeding symptoms during childhood or early adolescence, thus placing them within the category of women with hemophilia or symptomatic hemophilia carriers. As such, their personal experiences likely impact their desire for earlier carrier testing, and it is possible that asymptomatic hemophilia carriers would have different beliefs or attitudes regarding the timing of carrier testing.…”

Section: Discussionmentioning

confidence: 99%

“…Although the number of hemophilia carrier participants in focus groups was small (11 carriers in two groups), this sample size is in line with other similar qualitative studies that had 11-15 participants. 16,22 Similarly, our study design of in-depth qualitative work via focus groups, supplemented by questionnaires for both carriers and health care providers, has been used in many similar studies. 14,15,22,26 Another strength of our study is the wide age range of hemophilia carrier participants, 21-69 years of age, as women's experiences of being a hemophilia carrier has been documented as a process that evolves over time.…”

Section: Discussionmentioning

confidence: 99%

“…Our results clearly show a parental preference for earlier hemophilia carrier testing compared with health care providers, a finding that has been documented in a number of other studies. 22,25,26 It is important to recognize the diversity of ways hemophilia affects women and acknowledge the impact an individuals' experience will have on their attitudes and beliefs, particularly those related to testing. 22,25 A challenge in interpreting our results is that most of our participants reported experiencing a number of bleeding symptoms during childhood or early adolescence, thus placing them within the category of women with hemophilia or symptomatic hemophilia carriers.…”

Section: Discussionmentioning

confidence: 99%

“…Interested carrier participants who met eligibility criteria (self‐identified hemophilia carrier, ≥18 years, English speaking) were given full study information by email and verbal consent was obtained over the phone. Recruitment goal was 10–15 participants as similar studies found thematic saturation with these numbers 16,22 …”

Section: Methodsmentioning

confidence: 99%

See 4 more Smart Citations

Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers

Chaigneau

Botros

Grabell

et al. 2022

Research and Practice in Thrombosis and Haemostasis

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Background Hemophilia carriers experience abnormal bleeding symptoms; however, a lack of awareness about this topic coupled with additional knowledge gaps and barriers leads to suboptimal care for this population. Objective The primary objective was to describe the current knowledge gaps and challenges from the perspective of both hemophilia carriers and their health care providers. Methods We carried out a mixed methods descriptive study with two population groups between September and December 2020. The hemophilia carrier perspective was obtained through both focus groups and questionnaires, whereas the health care providers perspective obtained via questionnaire sent to the Association of Hemophilia Care Directors of Canada and the Canadian Association of Nurses in Hemophilia Care. Focus groups were analyzed using descriptive thematic analysis and quantitative survey data was also analyzed. Results Eleven hemophilia carriers participated along with 19 health care providers (11 physicians, eight nurses). Hemophilia carrier focus group discussions identified four areas representing major challenges or knowledge gaps: (1) negative psychosocial impacts; (2) difficulty determining symptom significance; (3) need for self‐advocacy; (4) testing concerns. Survey results from both groups were aligned with the most important topics for ongoing education identified as information on abnormal bleeding symptoms, where to seek treatment, and considerations for heavy menstrual bleeding/menstruation. The majority of both study groups believe obligate or potential carriers should have factor levels checked regardless of age if symptoms of abnormal bleeding occur or before an invasive procedure. However, hemophilia carriers were significantly more in favor of genetic testing under the age of consent than health care providers in all scenarios evaluated.

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Section: Strengths and Limitationssupporting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 3 more Smart Citations

Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers

Chaigneau

Botros

Grabell

et al. 2022

Research and Practice in Thrombosis and Haemostasis

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Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers

Ho,

Ng,

Yung

et al. 2024

American J of Med Genetics Pt A

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Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular studies, the number of studies reviewing the reproductive choices of hemophilia A carriers and affected individuals remains limited. Through this retrospective review, we hope to gain a deeper understanding of hemophilia A‐affected individuals' clinical and molecular characteristics, as well as the reproductive choices of the at‐risk couples. A total of 122 individuals harboring likely causative F8 gene alterations from 64 apparently unrelated families attending three centers between 3/2000 and 3/2023 were included in this study. Their clinical and molecular findings as well as reproductive choices were gathered in a clinical setting and verified through the electronic medical record database of the public health system. Forty‐seven affected males and 75 female heterozygous carriers were included in the analysis. Among 64 apparently unrelated families, 36 distinct pathogenic/likely pathogenic variants were identified, of which 30.6% (11/36) of variants were novel. While the majority of clinical findings and genotype–phenotype correlations appear to be in accordance with existing literature, female carriers who had no fertility intention were significantly more likely to have affected sons than those who had fertility intention (5/19 vs. 4/5; p = 0.047). Through this retrospective review, we summarized the clinical and molecular characteristics of 122 individuals harboring pathogenic/likely pathogenic F8 variants, as well as their fertility intentions and reproductive outcomes. Further studies are required to look into the considerations involved in reproductive decision‐making.

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Primary postpartum hemorrhage in women with von Willebrand disease and carriers of hemophilia: a retrospective analysis

Punt,

van Leusden,

Bloemenkamp

et al. 2024

Research and Practice in Thrombosis and Haemostasis

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A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy

Cited by 7 publications

References 31 publications

Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers

Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers

Primary postpartum hemorrhage in women with von Willebrand disease and carriers of hemophilia: a retrospective analysis

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