This week, Bobbi Conner talks with Dr. Christina Abrams about sickle cell disease in children. Dr. Abrams is a Clinical Assistant Professor of Pediatrics and Director of the Pediatric Sickle Center at the MUSC Shawn Jenkins Children’s Hospital.
TRANSCRIPT:
Conner: I'm Bobbi Conner for South Carolina Public Radio with Health Focus here at the radio studio for the Medical University of South Carolina in Charleston. It's estimated that over 4000 children and adults in South Carolina are living with sickle cell disease. Doctor Christina Abrams is here to talk about the details. Doctor Abrams is an Assistant Professor of Pediatrics and Director of the Pediatric Sickle Cell Center at MUSC Shawn Jenkins Children's Hospital. Doctor Abrams, tell us about sickle cell disease.
Dr. Abrams: So, sickle cell disease is an inherited condition that affects the hemoglobin, or one of the proteins that's inside of your red blood cell. So, instead of having nice flexible red blood cells, you actually have red blood cells that are shaped like sickles or crescent moons. Because of this, those red blood cells are very fragile and very sticky. And so, it leads to complications like severe anemia and severe pain.
Conner: And I know newborn babies are screened in South Carolina and elsewhere in the U.S. for sickle cell disease. Tell us about that newborn screening.
Dr. Abrams: In the United States, across all 50 states, children are screened for hemoglobin disorders through the newborn screening program. We're able to pick up children that have sickle cell disease as well as sickle cell trait. And I actually see patients with both sickle cell disease and sickle cell trait. Sickle cell trait, mostly for counseling, to see what the impacts might be long term for their reproductive decisions, and then sickle cell disease, because we can intervene to make sure that they live healthy lives.
Conner: When a child is diagnosed with sickle cell disease, what treatments or therapies are started?
Dr. Abrams: When we first see patients, we like to see them as early as possible, somewhere between 2 to 4 weeks old up to two months. And the first thing that we start is a preventative antibiotic to help prevent them from severe bacterial infections. We start that very, very early and have big conversations with the family about what it looks like to live with a child that has sickle cell disease.
Conner: And at what point would you start treatment or therapies for the child, and what is the treatment for sickle cell disease?
Dr. Abrams: So, we have two, what we call disease modifying therapies. We would start those as early as nine months. And really our options are two: Hydroxyurea and l-glutamine. And our goal as pediatric hematologists and pediatric sickle cell doctors is to make sure that kids are able to live a healthy enough life to get to the point where they're eligible for gene therapy.
Conner: And tell us more about gene therapy for children that have sickle cell disease.
Dr. Abrams: The children in South Carolina and some of the young adults in South Carolina have been very lucky that MUSC, as the bone Marrow transplant and cellular therapy center for the state, have had gene therapy and bone marrow transplant as an opportunity for their children for at least 15 years.
Conner: And for South Carolina children who have gone through gene therapy, what is the impact?
Dr. Abrams: It's been an amazing thing to watch these families go through this process. Sickle cell disease is at the base a very unpredictable disease. And so, a lot of times families feel like they can't necessarily live their life for fear of their kids having complications from their disease. So, what I have seen with children, adolescents and young adults is they get their life back. They no longer are waiting for a surprise complication that impacts their ability to live their life. And so, it's been very encouraging and very exciting to see these kids thrive after gene therapy.
Conner: Doctor Abrams, thanks for talking with us about sickle cell disease.
Dr. Abrams: Thank you so much.
Conner: From the radio studio for the Medical University of South Carolina in Charleston, I'm Bobbi Conner for South Carolina Public Radio.
Health Focus transcripts are intended to accurately represent the original audio version of the program; however, some discrepancies or inaccuracies may exist. The audio format serves as the official record of Health Focus programming.
