Sickle cell disease is a inherited blood disorder caused by a mutation that affects function of hemoglobin, the major protein responsible for carrying oxygen in the blood. The mutation is recessive, meaning an individual must have two copies of the gene, one from each parent, to get the disease. The mutation causes red blood cells to change their shape, forming rigid sickles. These blood cells die earlier than normal blood cells causing anemia, hence the disease’s other common name, sickle cell anemia. The irregular shaped cells have an increased tendency to stick together and adhere to blood vessel walls, resulting in vaso-occlusive events referred to as sickle cell crisis. These crises produce pain that often requires hospitalization with an average of 4-5 days. Treatment with narcotic drugs can help alleviate pain, but does not address the causal vaso-occlusion. Repeated episodes can lead to organ damage that is cumulative and shortens life expectancy to an average 53-60 years.
While Sickle Cell Disease has received significant attention from researchers, not enough progress has been made on drug development despite the devastating effects it has on patients and families. The CWHM has the expertise to bring forward a new therapy with the potential to directly reduce the underlying vaso-occlusion leading to pain crises, and is in urgent need of modest funding to rapidly advance this opportunity and provide a new option for treatment for these patients.