Understanding Sickle Cell Disease and Treatment
Did you know that sickle cell disease (SCD) ranks among the most prevalent hereditary disorders in the United States? It predominantly affects African American and other Black populations, with over 100,000 individuals grappling with its challenges, according to the Centers for Disease Control.
SCD is an inherited blood disorder that alters the shape of red blood cells, crucial for oxygen transport throughout the body. While healthy red blood cells are typically round and flexible, in SCD, a genetic mutation causes them to assume a rigid and adhesive sickle shape. This abnormality impedes blood flow, leading to a host of complications.
Symptoms of SCD can manifest early in life, with severe pain crises often initiating from swelling in the hands and feet. Other hallmark symptoms include anemia, fatigue, delayed growth, vision problems, blood clots, stroke, and organ failure.
The condition encompasses four types, ranging from the most common and severe form, Sickle Cell Anemia, to the more benign Sickle Cell Trait, which may present solely as a trait without disease symptoms. Rare variants include HbSC (Hemoglobin Sickle Cell Disease) and HbS-β0 Thalassemia (Sickle Thalassemia).
The popular phrase “an ounce of prevention is worth a pound of cure” shows that prevention strategies such as staying hydrated, managing pain, and avoiding low-oxygen environments, play a pivotal role in delaying SCD complications. However, for those seeking a potential cure, bone marrow or stem cell transplants stand as the only FDA-approved therapy.
Pharmacotherapy offers management options, with medications like Hydroxyurea, Voxelotor (OXBRYTA®), L-glutamine (ENDARI®), and Crizanlizumab (ADAKVEO®) providing relief for various symptoms. Moreover, groundbreaking advancements in biotechnology have introduced gene therapy options like Casgevy and Lyfgenia, offering hope for a one-time, single-dose infusion as part of a stem cell transplant.
As technology and research continue to advance, the landscape of SCD treatment evolves, promising optimized options and brighter futures for those living with this challenging condition.
References
- Sickle Cell Disease – What Is Sickle Cell Disease? | NHLBI, NIH
- About Sickle Cell Disease | Sickle Cell Disease (SCD) | CDC
- Hydroxyurea [Prescribing information]. Princeton, NJ: Bristol-Myers Squibb Company; July 2021.
- Oxbryta (voxelotor) [package insert]. South San Francisco, CA: Global Blood Therapeutics Inc; November 2019. https://oxbryta.com/pdf/prescribing-information.pdf
- Endari [package insert]. Torrance, CA: Emmaus Medical, Inc; October 2020.
- Adakveo [package insert]. East Hanover, NJ: Novartis Pharmaceuticals Corporation; November 2019