Is Sickle Cell Disease Moving Closer to a Cure?

By Serena Thompson

Bone-crushing pain surges throughout her body. For Tesha Samuels, this is a normal pain. Samuels has sickle cell disease. Sickle cell disease affects up to 100,000 people a year, mainly African Americans.

“It feels like someone is trying to break every bone in your body all at the same time,” Samuels said. “It depends on where it was at in your body. It affected my arms and legs making it hard to walk and even hard to breath.”  

Sickle cell disease is a blood disorder that is caused by a gene mutation. It causes red blood cells to form crescents instead of full circles. The irregularly formed cells can clog blood vessels, which blocks blood flow throughout the body. This can lead to symptoms such as pain, fatigue or swelling of joints.

Patients are given countless ways to treat their symptoms. One of the most effective ways is medication. Hydroxyurea is one of the very few medications used to treat sickle cell. Since hydroxyurea has been used to treat sickle cell, pain crisis has gone down by 50%. The treatment also helps to increase the life expectancy.

“We haven’t yet seen patients develop cancer or leukemia or have unexpected side effects,” Dr. Martin Steinburg says. “The second conclusion is that the data suggest. that these patients who take hydroxyurea have reduced mortality compared to the patients who didn’t take the drug. We’re excited and encouraged by the news.” 

Scientists and researchers have been studying new ways to treat sickle cell. Fortunately for Samuels, she has had the opportunity to participate in a clinical trial for gene therapy, which has helped to transform her life.

“I wanted to be able to give myself the life I’ve always dreamed of,” Samuels said. “I didn’t know how it would turn out but I’m glad I did it. Even if I did remain with sickle cell, the research that went forth would help the future.” 

Gene therapy alters the gene that causes the disease. In sickle cell, the HBB gene is altered. Doctors take the cells in the patient, replace the genes inside of the cells and then puts them back into the patient’s body.

“These therapies should work within a patient with sickle cell disease,” Dr. Ed Benz said. “It’s always worth checking with the investigators who do that.”

Samuels continues to advocate for clinical trials in many ways.

“I’m excited about the advances that has been in sickle cell,” she said. “On my social media accounts, I’m always telling people my story. I’m advocating here just to let people know about clinical trials. There has been so much development since I was diagnosed, so there’s a lot of treatment out there.”