Sickle cell disease symptoms and treatment options
People born with sickle cell disease inherit the genetic condition from both parents, who either have the disease themselves or carry the affected gene. There are four subtypes of the disease, each with varying levels of severity and health complications.
The disease impairs red blood cells’ ability to hold onto oxygen and deliver it to organs and tissues throughout the body, which can cause anemia and organ damage. Blood cells can become rigid and warped into the shape of the letter C, so when they travel through small blood vessels, they can get stuck and cause extreme pain.
There are medications that can help people manage their pain and other health complications, but the average lifespan for people with sickle cell is still about 20 years shorter than the general population, national data shows.
Early treatment and intervention can help people avoid complications and prevent or delay the disease’s long-term effects, Lanzkron said, but she added that those efforts won’t be successful if people can’t see medical specialists who have deep knowledge in treating the disease.
“The local community hematologist is a really nice human being, but they don’t do this every day of their lives,” she said. “There are certain things that we need to make sure that are happening for everybody every year — annual evaluations — to make sure that people are able to live their best lives.”
Connecting people to specialty doctors and centers also gives them access to emerging treatment options like gene therapies or stem cell transplants, which are both done at Thomas Jefferson University and can be curative.
“There are lots of options to offer before you get to curative therapy, but if that’s what people want, they need to be evaluated and managed before they take that step,” Lanzkron said. “And that can’t happen outside of these centers.”