In Sickle Cell Disease (SCD) hemoglobin mutations damage the erythrocyte membrane altering the shape (creating the sickle shape associated with this disease) making the cells less flexible. The reduced flexibility of these cells results in chronic and acute complications in multiple organ systems, and while life expectancy has increased in the last 50 years for individuals suffering with SCD it is still significantly lower than the general population. 

 

While we now know that SCD is due to a single mutation which causes erythrocytes to develop an altered shape the inflammatory responses these individuals experience, including vaso-occlusive crisis (VOC) are more complicated. A major contributor to SCD mortality are VOC complications including acute pain, kidney issues, heart disease, and complications in the central nervous system. 

 

The good news is that there are a growing number of therapies and treatments available to increase the quality of life for the individuals with SCD. Hydroxyurea treatment can be used to reduce the severity and frequency of these VOC events increasing the lifespan of individuals with SCD. To gain a better understanding of this growing issue and the usefulness of both current treatments, such as hydroxyurea, and upcoming therapies including cell and gene therapy options please see my slide deck below.