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

Abstract

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.

Exploring Female Relatives of Patients with Hemophilia’ Awareness, Attitudes, and Understanding Towards Genetic Testing

“…This study found that privacy, expense, and a fear of positive results affected the choice of female relatives of PWH regarding participation in genetic testing, consistent with the findings of Punt et al and Chaigneau et al 23 , 48 These results suggest that when conducting genetic testing, it is necessary to ensure the security of the genetic information for the whole family, 49 and relevant departments should improve personal privacy protection policies, strengthen the awareness of medical safety precautions among medical workers, and eliminate the concerns of hemophiliac families about the inappropriate use of their genetic information. Professional medical and nursing teams should be organized to expand specialist training and assessment in genetics, improve genetic testing techniques, and report the interpretation ability of medical workers, to provide comprehensive and systematic genetic guidance and prompt high-risk groups to overcome their fear and negative emotions.…”

Clinical and treatment characteristics of infants and toddlers less than 2 years of age with hemophilia

“…Several sources have recommended testing at risk females for hemophilia as soon as feasible to allow appropriate management for procedures, bleeding episodes, trauma, and life planning. 26 , 27 , 28 It would be prudent to continue studying females with hemophilia on a larger scale, develop evidence-based guidelines, training of health care professional and families, and developing further research for females with hemophilia so that diagnosis is not delayed. Whether prophylaxis was started in relation to a bleeding complication vs following diagnosis was not recorded.…”

A Qualitative Study Exploring the Experiences and Perceptions of Patients with Hemophilia Regarding Their Health-Related Well-Being, in Salamanca

“…Another aspect for improvement is that the level of knowledge of health professionals about hemophilia is low and sometimes limiting when it comes to the clinical approach, as observed in the study by Chaigneau et al [ 40 ].…”