The history of women and hemophilia: a narrative review of evolving beliefs and testing practices
Megan Chaigneau 1), Mackenzie Bowman 1), Pamela Wilton 2), Robert Card 3), Man-Chiu Poon 4), David Lillicrap 5), Michelle Sholzberg 6), Paula James 1)
1) Department of Medicine, Queen’s University, Kingston, Ontario, Canada
2) Canadian Hemophilia Society
3) College of Medicine, University of Saskatchewan, Saskatoon, Canada
4) University of Calgary Cumming School of Medicine, Calgary, Canada
5) Department of Pathology and Molecular Medicine, Queen’s University, Kingston, Ontario, Canada
6) St. Michael’s Hospital, Li Ka Shing Knowledge Institute, Toronto, Canada
Abstract
The history of hemophilia is well documented, yet reports focus heavily on the male perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we tracked the progression of beliefs about women and hemophilia as documented in the literature from pre-1800s to the present time. We present a timeline of evolving beliefs and testing practices and identified 9 distinct time periods when key shifts occurred related to various scientific discoveries. Our review highlights how women affected by hemophilia experienced complete dismissal of their health issues despite evidence of bleeding symptoms as early as the 1900s. We identified 1990 as a major timepoint for shifting beliefs when large scale acknowledgment that hemophilia also affects women is documented and systematic testing for bleeding risk is first suggested. Women evolve from being seen as unaffected genetic transmitters only, to being recognized as a population affected by hemophilia in unique ways requiring timely testing and effective treatment. Yet, despite this clear progress, recent publications continue to document many persistent issues such as delayed diagnosis, untreated symptoms, and barriers to care. Ongoing research and advocacy efforts are required to improve knowledge translation until real-world outcomes are seen in screening, diagnosis, treatment, and prevention of bleeding.