Authored by Jaidyn Duhon '26
Art by Fiona Reilly '26
Millions of people throughout the world are afflicted by the genetic illness known as Sickle Cell Disease (SCD). This condition is brought on by a mutation in the gene that makes hemoglobin, the blood-oxygen-carrying protein. Red blood cells with this mutation develop aberrant hemoglobin molecules, which give rise to sickle-shaped, stiff, and brittle red blood cells [5]. If you have taken any science course, chances are you have heard of Sickle Cell Disease (SCD). Less known, however, is that sickle cell mostly affects people of African, Mediterranean, and Middle Eastern Descent [1]. Traditional science curriculum only regards Sickle Cell as a phenomenon—asking questions such as how crazy is it that blood cells can be abnormally shaped? Yet, many courses fail to mention the severity of the disease, how it impacts patients and their families, or why it disproportionately affects African Americans and other demographics.
SCD can have a wide range of symptoms, from moderate to severe, and it can have an impact on several body systems and organs. The most prevalent signs and symptoms include severe pain crises or episodes, exhaustion, breathlessness, and anemia [1]. The New York Times profiled patients with SCD. One such profilee was Joshua, who was diagnosed with Sickle Cell Disease at birth. Informed of the facts of the disease, it was known that this condition affects the shape of one’s hemoglobin. However, what was unknown was the symptoms Joshua would face, and when a cure for the disease would be discovered. Joshua’s mom, a licensed practical nurse, mentioned her awareness of the disease itself but not what the disease entailed. Many people do not know if they are carriers of the sickle cell trait, yet Joshua’s mom was told by her doctor that he tests every Black woman for the sickle cell trait [2].
SCD has a significant impact on the African population; according to data, about 1 in every 365 African Americans are diagnosed with SCD [3]. If this statistic does not convince you of the disproportional effect of the disease, a person born with sickle cell trait (SCT), which occurs when they have one copy of the sickle cell gene but do not have sickle cell disease (SCD), is approximately 1 in 13 African Americans [3]. The question of why SCD exacts a disproportionate effect on the African population is answered by evolutionary factors. Sickle cell trait allows for heterogeneous red blood cells with a peculiar topology that provide a heterozygous advantage during infection with malaria. [2].
SCD has a substantial effect on patients and their families that frequently extends beyond physical symptoms. Hospitalizations, missed days at work or school, and a lower quality of life can all be consequences of the illness. Additionally, it causes patients and their families a great deal of psychological stress since they may feel alone, misunderstood, or stigmatized [3]. One of the most devastating consequences of SCD is the increased risk of stroke, which is alarming due to how rare it is for someone to have a stroke at such a young age. At only 3 months old, Joshua experienced his first pain crisis. At 18, he had a stroke which left him partially paralyzed. As of 2021, Joshua was awaiting a bone marrow donor.
Early detection of the sickle cell trait, which is now part of standard newborn screenings in the United States, is the first step toward SCD prevention. Since those with sickle cell trait have a higher likelihood of passing it onto their offspring, prevention of SCD begins with early identification. A 25% probability exists that a kid will acquire SCD if both parents have the sickle cell trait [3]. Newborn screening programs enable early interventions and treatments to manage symptoms and prevent problems. Early diagnoses also make it possible for parents and other family members to receive genetic counseling that can assist them in understanding the dangers of the sickle cell trait. Athletes with SCT are more susceptible to experiencing heat strokes and muscle breakdown during intense exercise [3]. In an attempt to prevent these complications, and as part of NCAA compliance, every student-athlete must test for SCD.
Sadly, SCD is an incurable inherited condition. The underlying genetic mutation that causes the condition does not yet have a cure, although there are therapies available to manage the symptoms and side effects. Clinical studies for potential curative procedures such as bone marrow transplants and gene therapy are in progress. Research is still being done in these areas. However, it can be years before these medicines are generally accessible because they are still in the experimental stages. Until then, efforts are concentrated on symptom treatment and preventative strategies to enhance the quality of life for SCD patients. In order to find a solution for this terrible disease, it is critical to keep bringing SCD into the public's consciousness and supporting research efforts.
So what can you do? It is essential to recognize the full context of Sickle Cell Disease and bring awareness to the severity of the disease. Furthermore, Joshua and other patients who need transfusions can benefit from blood or stem cell donations. If capable, it is imperative to donate whether it be blood or stem cells. Supporting initiatives to spread knowledge, encourage people to get tested for the sickle cell trait, give blood or stem cells, and offer assistance and resources to sufferers and their families is crucial.
Works Cited
Mayo Foundation for Medical Education and Research. (2022, March 9). Sickle cell anemia. Mayo Clinic. Retrieved March 6, 2023, from https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
Centers for Disease Control and Prevention. (2021, December 17). Real stories from people living with sickle cell disease: Vera. Centers for Disease Control and Prevention. Retrieved March 6, 2023, from https://www.cdc.gov/ncbddd/sicklecell/stories/vera.html
Centers for Disease Control and Prevention. (2022, May 2). Data & statistics on Sickle Cell Disease. Centers for Disease Control and Prevention. Retrieved March 6, 2023, from https://www.cdc.gov/ncbddd/sicklecell/data.html
Inusa, B. P. D., Hsu, L. L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K. A., & Atoyebi, W. (2019). Sickle Cell Disease-Genetics, Pathophysiology, Clinical Presentation and Treatment. International journal of neonatal screening, 5(2), 20. https://doi.org/10.3390/ijns5020020
Centers for Disease Control and Prevention. (2021, December 17). What is Sickle Cell Disease? Centers for Disease Control and Prevention. Retrieved March 6, 2023 from https://www.cdc.gov/ncbddd/sicklecell/facts.html