The history of women and hemophilia: a narrative review of evolving beliefs and testing practices.

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 track the progression of beliefs about women and hemophilia as documented in the literature from pre-1800's to the present time. We present a timeline of evolving beliefs and testing practices and identify nine 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 1900's. We identify 1990 as a major timepoint for shifting beliefs when large scale acknowledgement 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 documented progress, recent publications 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.