On June 19th, look for buildings lit in red to raise awareness of sickle cell disease and the challenges experienced by patients, their families and caregivers. The inherited blood disorder occurs in more than 100,000 people in the US, resulting in serious chronic disease and 75,000 hospitalizations annually.
The Sickle Cell Anemia Act of 1972 raised awareness of the disease and increased screening so that early intervention is now common. 20 years ago the introduction of the pneumococcal vaccine helped to reduce the mortality rate for children under 4 with sickle cell disease by 42%. Today, patients are best managed in a comprehensive multidisciplinary program of care that can include penicillin prophylaxis in those under 5, hydroxyurea, blood transfusions and opioids for pain management. Since 2017, three additional medications are now available to help manage symptoms: L-glutamine, crizanlizumab and voxelotor. Still most management of sickle cell disease is palliative and not a cure.
“…unfortunately, patients still have a poor quality of life because of extreme pain episodes, end-organ damage, and also a reduced life expectancy.”1
Starting in 1984, bone marrow transplant has been used as a therapy in patients with disease serious enough to outweigh the risks of the procedure, and for whom a good donor match can be found. About 1,200 of these procedures have been reported. In 2018, the National Heart Lung and Blood Institute at NIH launched the Cure Sickle Cell Initiative to advance gene therapy for sickle cell disease; a number of clinical trials are currently underway. The CEDAR study in phase 1 clinical trials uses gene correction, a combination of gene editing and addition. You can learn more about current therapies, including gene therapies, in this article from the American Society of Hematology Education Program.2
Though gene therapy is promising, we are still far from a cure for this debilitating chronic disease. To learn more about the Shine the Light campaign and what you can do to advance research visit the Sickle Cell Disease Association of America site.
- Ashorobi D, Bhatt R. Bone Marrow Transplantation In Sickle Cell Disease. [Updated 2021 Jul 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538515/
- Kanter, J., & Falcon, C. (2021). Gene therapy for sickle cell disease: where we are now?. Hematology, 2021(1), 174-180. https://doi.org/10.1182/hematology.2021000250
