Although anyone can inherit sickle cell disease, it disproportionately impacts communities of color. According to the Centers for Disease Control and Prevention, sickle cell disease occurs in one out of every 365 Black or African American births and one out of every 16,300 Hispanic American births. Plus, about one in 13 Black or African American people are born with the sickle cell trait.
We asked Dr. Bhatia, who is also an associate professor of pediatrics at the Columbia University Vagelos College of Physicians and Surgeons, to share additional insights about sickle cell disease, including how it impacts the body and recent advancements that make it easier to treat the disease.
How does the sickle shape of the cells affect people with sickle cell disease?
Dr. Bhatia: The sickle-shaped red blood cells affect hemoglobin, which is the protein that carries oxygen throughout the body. Due to their irregular shape, the cells become clogged in the vessels. And when the red blood cells get stuck in vessels, they decrease the oxygen to organs.
This causes pain throughout the body that can take days to resolve. Some patients can manage the episodes at home with pain medicines, while others need to be in the hospital; these hospitalizations can be lengthy, up to two weeks in some cases. Among other complications, people with the condition can experience not only pain crises, but anemia, strokes, and organ damage.
How is the disease diagnosed?
There are prenatal and newborn screening options available. Newborns can be diagnosed with the disease by about two weeks of age. Symptoms begin to develop anywhere after four to six months. One of the early symptoms in newborns is dactylitis, which is swelling of the hands and feet. This is very painful and sometimes requires admission to the hospital for pain control.
How do the health challenges associated with sickle cell disease impact patients’ lives?
As children get older, they can have pain crisis episodes not only in their hands and feet, but in their back, shoulders, and chest. Some children are unfortunately at risk for strokes and can have significant cognitive decline, as well as physical dysfunctions such as vision loss and liver and kidney problems, to name a few.
Often in pediatric care settings, these patients miss school because of their pain crises. I have had children report to me that they are missing one to two weeks a month. This then has a downstream effect in terms of what and how much they can achieve. Many children have had to repeat a grade.
Patients with sickle cell disease also have shortened lifespans. Most patients with the most severe form of the disease have median life expectancies of about 50 years of age, which is 20 to 30 years less than those who do not have sickle cell disease. Studies have shown that up to 50% of people with sickle cell disease are unable to maintain consistent jobs due to the sequelae of the disease and have to go on disability.