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Rania Habib, MD, DDS (Host): The Centers for Disease Control estimates that sickle cell disease affects around 100,000 Americans. What is sickle cell disease and how is it managed? This is Expert Insights with the Carle Foundation Hospital. I'm your host, Dr. Rania Habib. Joining me today is Dr. Connie Piccone, the Associate Medical Director of Pediatric Specialties, and she is here to give us a full insight into sickle cell disease. Welcome to the show, Dr. Piccone. We're so excited to have you with us today.

Corrine Piccone, MD: Thanks, Dr. Habib. I'm happy to be here.

Host: Let's start with a really simple question. What is sickle cell disease?

Corrine Piccone, MD: So, that's a great first simple question because, you know, honestly, a lot of people are unaware of sickle cell disease, despite the fact that it's actually the most common genetic disorder in this country. So, sickle cell disease is an inherited blood disorder. So, what that means is it's something that you're born with. It's passed down through the family. So, it's not anything that you can catch like a cold or the flu. And being a blood disorder, what that means is that it affects the red blood cells, which are the cells in your body that carry the oxygen around.

Host: Okay.

Corrine Piccone, MD: In this case, what happens is kind of two things. The first thing is that individuals with sickle cell disease are unable to make the normal amount of red blood cells. So, that's what we call anemia. And anemia can have, as many people know, a lot of different effects on the body, including things like fatigue, lower energy, things like that. But the second kind of main issue in sickle cell disease is that the red blood cells not only are at lower levels, but are also abnormally shaped. So, they're not the normal kind of round, flexible, what I tell my pediatric patients look like donuts, instead they're more of a crescent or sickle shape. And that's where the name of the disease actually comes from.

Host: So when a patient is diagnosed with sickle cell disease, what are the most common signs and symptoms that they would have?

Corrine Piccone, MD: So in this current day and age, what we do is we actually screen all babies. So with the newborn screen that we do in the United States, all 50 states, newborns are identified at birth. The reason why this is a really great thing is because we can institute treatments, start things early on, and that really has been extremely, extremely helpful in helping to either alleviate, you know, decrease or lessen some of the clinical problems that we see in patients with sickle cell disease.

Host: That's fantastic that you guys are catching it at birth.

Corrine Piccone, MD: Exactly. No, it is. And because we're able to identify it early, when we think about kind of the most common problems or issues that we see with sickle cell disease, many people know this, but pain is the most common complication we see. And the pain results from those sickle cells causing blockages in the blood vessels. So, you know, you can think about it like a traffic jam. You're not able to go anywhere. Nobody's moving. And, you know, in the case of the red blood cells, what happens is if they're not getting to where they need to be, they're not getting that oxygen to the places in the body where it needs to be. And so, the pain that results can be extremely debilitating and, again, lifelong because this disease is a chronic or lifelong disease.

Host: Now, I know you said that they screen for sickle cell disease. So, we've heard a lot about sickle cell trait. What is sickle cell trait and how does that differ from sickle cell disease?

Corrine Piccone, MD: That's a great question too. Sickle cell trait is just being what I call a carrier. So, when you have an inherited disease, you get half of your genetic information right from your mom and half from your dad. In this situation, you would get one abnormal hemoglobin or that hemoglobin S or sickle hemoglobin, we call it, one of those abnormal genes from one parent. So, that then kind of translates into the body making some of those sickle cells, but you're still able to make more of the normal healthy red blood cells. So again, it's being a carrier and that is very different from having sickle cell disease, because individuals with sickle cell trait generally have no major health issues or problems. They lead normal lives, normal lifespans, that kind of thing.

Host: Now, in the U.S., we know that the CDC said about 100,000 Americans are diagnosed with sickle cell disease. What populations are most affected by sickle cell disease and why?

Corrine Piccone, MD: You know, it's actually interesting because the reason why sickle cell, both trait and disease actually kind of around exist is in large part related to genetics and evolution. So in the 1950s, they actually identified that sickle cell, both trait and disease, offered some protection against malaria infection. And so when you think about kind of the places around the world where malaria is most prevalent, those are going to be the same exact places where we see sickle cell most prevalent. Now, of course in the United States, we don't need any protection from malaria. But again, from an evolution side of things, you know, as things have kind of evolved over the last several thousand years. That's really why sickle cell disease was kind of why it came into existence, so to speak, because it offered some protection against malaria.

Host: It's so interesting that that shape of the cells is offering protection against malaria, but then it's got the side effects of causing sickle cell crisis and pain and things like that. So, an interesting trade off.

Corrine Piccone, MD: Yeah. No, it is. And then, particularly when you look at the United States and all of the different and amazing populations of people that live in our country, you know, it really is not just limited, so to speak, to African Americans or Hispanic Americans, there are different types of sickle cell disease. And so, you know, it's really something that we do need to be thinking about in kind of all populations in this country.

Host: Absolutely. Now, Dr. Piccone, you said this is often found at birth, they are able to screen for it. So, you being a pediatrician are at the forefront of treating sickle cell disease. So, what is the standard of care in the treatment of sickle cell disease?

Corrine Piccone, MD: So in pediatrics, once infants are identified as having sickle cell disease, then I generally try and see them within the first couple months of life. We know from a very kind of simple, but really awesome research study that was done back in the 1980s, that starting antibiotic prophylaxis, meaning putting infants on something as simple as penicillin every day, twice a day, was actually life-saving. Patients with sickle cell disease because,, in part of the effects that sickle cell can have on your immune system patients are at a much, much higher risk of getting more serious infections. So, very serious kind of bacteria infections or blood infections. And when we start antibiotics early, so we start around two months of age when we start those antibiotics early on, we can help to prevent those serious infections. And again, this study that was done now many years ago found that they were able to increase the life expectancy. So, patients were now able to go on into adulthood, because they weren't dying a very bad infection in their childhood or teenage years. So, that's been something that's been, again, simple, but truly life-saving for patients.

Host: Now, what tnew treatmentsand advances show promise in sickle cell disease?

Corrine Piccone, MD: So, that's a great question too, because I will say that we have been very behind in sickle cell disease in terms of innovation and research when you compare it to other genetic disorders, like cystic fibrosis, for example. However in the last five seven years, we have seen some significant improvement in treatment, which is awesome. We have and have had for a long time a medicine called hydroxyurea. And that is kind of our mainstay, that's, our go to, if you will, in patients with certain types of sickle cell disease. And so, that's a medicine that we do start kind of early on as well before a year of age in patients with certain types of sickle cell.

Beyond that, there have been three medications that have been approved in sickle cell disease. The first one was back in 2017 and, you know, the remarkable thing about that, both kind of in a good way and a bad way, is that's the first approved drug for sickle cell disease in almost 20 years. So, it took kind of that long for us to kind of move things forward for patients with sickle cell disease. And so, we still have a lot to do and, you know, a lot to go, so to speak, in terms of getting the best most comprehensive care for patients.

But the last thing I will say is that just two, three months ago in December of 2023, the FDA approved two genetic therapy approaches for sickle cell disease. These are curative treatments. So, this is a way to cure patients of their sickle cell disease, which of course, is an amazing thing to be able to do for patients. But It's also the first time that the FDA has approved these type of therapies for a chronic disease, which is also pretty amazing. So, there will be a lot more to come in terms of, how we're going to be able to offer these treatments to all patients, what the access is going to be, how we're going to get coverage so, again, that everyone can have equitable access to these treatments. So, it really is a very exciting time for sickle cell disease.

Host: Absolutely. The fact that these are curative shows such promise and can really offer these patients a cure and not have these sickle cell crises is incredible.

Corrine Piccone, MD: Right, exactly. And that's being able to offer patients the ability to live their lives, right? You know, without having to think about the everyday medicines and having to go to the hospital or come to see somebody like me all the time. I mean, yeah, it's a huge thing.

Host: No, that's amazing. In medicine, we have shown that collaborative care usually means better care. Could you describe the team approach to caring for patients with sickle cell disease, Dr. Piccone?

Corrine Piccone, MD: Absolutely. And this is something that, not just for sickle cell, but for a lot of our chronic illnesses that we diagnose in the pediatric world, you know,. And when kids are young, this is something that we do try and focus on. For sickle cell, I really try and bring in everyone. And, you know, at Carle, it's really easy for me to do that because all of our pediatric specialties are kind of housed in one location here in one clinic. So, I'm able to have our pediatric lung doctors, if I need them, our pediatric surgeons, you know, if kids need surgery. But beyond that, also incorporating our dieticians to help focus on nutrition, our social worker to help with kind of the social aspects and offering resources to families, helping with transportation and things like that. So, we really do strive for that multidisciplinary or, you know, team approach because that really is the best way to take care of kids with sickle cell.

Host: Absolutely. Those kids are really lucky to have you and your team to be able to be seen by all those providers in one area.

Corrine Piccone, MD: Yeah. It's been really nice benefit, because we do have kind of everyone in one location. So, we can try and make things easier for families as much as we can.

Host: Dr. Piccone, you're a pediatrician, so once a child outgrows pediatric care and is transitioning to adult care, what important factors contribute to that transition?

Corrine Piccone, MD: This is so, so important. I'm glad you asked that. In general, having a chronic medical illness is so challenging very often for patients to be able to successfully manage their care. And honestly, we know for teenagers, life is hard sometimes, you know, and, then having to think about their medical illness, changing their care in terms of transitioning to adult providers, but even the basics of, you know, being able to know your medical history, what your medications are and what your insurance is, you know, the day to day like, "How do I call my pharmacy to refill a medication?" A lot of that can be very overwhelming for patients.

And so, one of the things that I try and do as much as we can and kind of starting as early as possible is to get teenagers into the practice of speaking for themselves, you know, asking the questions. I will direct all of my questions to them and then, have their parent or family member chime in if need be. But, you know, I really do want them to kind of get that practice and get into that habit of being their own advocate. So, that's one of the most important things. And then, there are a lot of nice tools that have been developed, but also are kind of in the process. Transition is something that it's not done as well as we would like. And so, there's a lot of kind of work and research looking at this as well.

But I will tell you, as an example, our American Society of Hematology, so our hematology organization has developed a toolkit for patients, for this transition. So, you know, it kind of provides assessment forms, things that are kind of designed to help with those conversations between me, the provider and patients and families. We also will kind of bring in our social worker. And, you know, I'm working with our adult providers, you know, in the cancer center here as well to hopefully be able to continue and enhance that communication, so that way we can make things as seamless as possible. I mean, we know it's going to be hard, you know, it is. I mean, it's hard growing up and becoming an adult, but we're trying to make that as seamless as possible.

Host: Now, that's fantastic. You offer some really great points that people don't think about, like that transition for the insurance and how do they get their medication, so you're doing such a wonderful service for these patients. Dr. Piccone, what take-home message would you like to leave with our audience today? You have provided us with such a wonderful wealth of information.

Corrine Piccone, MD: Well, there's so many things, Dr. Habib. But I would say, I think, number one, the most important thing is just what we're doing today, is we're talking about this, I want to make sure that our community, both the public community, so to speak, but also our medical community is aware of sickle cell disease understands kind of the potential complications or problems that can come up. But more than that just talking about it and educating folks. So that way, you know, they are asking the questions of, you know, "I don't know if I'm a carrier. I need to get tested, you know, things like that.

I think, beyond that, just making sure that we do have that communication between specialists like myself and our pediatricians, our family doctors. So that way, we know that we are taking care of the whole patient, you know, and taking care of the family as well.

Host: Well, thank you for that. You've left us with so much wonderful information. And if patients wanted to get in touch with you and either have their child screened for sickle cell trait or maybe they are a sickle cell patient and they want to transition care to your clinic, how would they do that?

Corrine Piccone, MD: So, the easiest way is probably to work with their primary care doctor to put in a referral for me. But you know, they can always call our pediatric specialties office as well. I'm happy to see everybody, but I will see patients both with sickle cell disease, but I also do see a lot of patients with sickle cell trait, really just to provide some of this education and counseling. So, even for that, you know, I'm happy to see patients and families to kind of go over a lot of that education.

Host: Well, patients and their families are lucky to have you.

Corrine Piccone, MD: Thank you.

Host: Thank you so much for joining us today, Dr. Piccone.

Corrine Piccone, MD: Absolutely. It's been a pleasure.

Host: That was Dr. Corrine Piccone, the Associate Medical Director of Pediatric Specialties at the Carle Foundation Hospital. For more information and to get connected with one of our providers, please visit carle.org. Or for a list of Carle providers and to view Carle-sponsored educational activities, head on over to our website at carleconnect.com. I'm your host, Dr. Rania Habib, wishing you well. That wraps up this episode of Expert Insights with the Carle Foundation Hospital.