Innovation in Hemophilia: From Blood to Genes, and the Unintended Consequences Along the Way

The last 50 years have seen advances in hemophilia treatment unprecedented compared to most other diseases. We have witnessed the initial development of the first effective treatment, cryoprecipitate derived from fresh frozen plasma in 1964, to fully curative therapies utilizing gene transfer in 2016. These advancements have had a dramatic impact on the overall quality and quantity of life, despite the loss of multiple generations in the 1980s-90s due to HIV and HCV contamination of the blood supply. The widespread iatrogenic genocide accelerated the era of recombinant clotting factors beginning in 1993, and the promise of plentiful, inexpensive, and safe clotting factor replacement therapies. While they were safe, they were neither plentiful nor inexpensive and multiple past shortages plus high prices have negatively impacted care. These innovations, widely available in resource rich countries, however, have left much of the developing world behind, with minimal to no access to coagulation factor replacement therapies and a median lifespan of 10 years. As the next wave of innovation is initiated to further improve care and offer a cure, solutions for resource poor countries must be considered. Having lived during the era of no treatment to curative therapy offers a unique perspective on what went right, what went wrong, and what we should do better as the next wave of exciting innovation is mainstreamed into the community.