Living with sickle cell disease
Sickle cell disease affects 1 in 365 African Americans, and the hallmark of the disease is pain. Alan Anderson, MD, and Carla Roberts, MD, discuss what sickle cell disease is, how it can be managed, what treatments are on the horizon, and how we can all support patients with sickle cell disease.
Prakash Chandran: Today, we’re talking about living with sickle cell disease with two experts from Prisma Health. I’m excited to be joined by Dr. Alan Anderson, he’s a Director of the Comprehensive Lifespan Sickle Cell Disease Program at Prisma Health; and Dr. Carla Roberts, Director of the Pediatric Sickle Cell Disease Program at Prisma Health as well.
This is Flourish, the podcast brought to you by Prisma Health. My name is Prakash Chandran. So, Dr. Roberts, I’d love to start with you and, hopefully, you can just tell us a little bit about what sickle cell disease is and how it’s different from sickle cell anemia.
Carla Roberts, MD: Great. Well, I’m glad you asked that. So I kind of tell people that sickle cell disease is kind of like a family name and there are different members of the family. There are four main types that we see in the United States. There’s the SS type where somebody’s inherited a sickle hemoglobin gene from each parent. The second most common type is the SC type where someone’s inherited the sickle gene from one parent and hemoglobin C from the other parent. And then, the third and fourth, most common types are a sickle beta plus thalassemia or sickle beta zero thalassemia where they’ve inherited the sickle gene from one parent and beta thalassemia from the other parent. And people with beta plus type, they can make a little bit of normal hemoglobin, usually have a milder type of sickle cell disease. Whereas people with the beta zero thalassemia type don’t make any normal hemoglobin and may have a more severe form of sickle cell disease.
So technically, the term sickle cell anemia, that refers to the most severe type of sickle cell disease, which are, in general, the SS type and the sickle beta zero thalassemia type. So I think, you know, a lot of people kind of use these terms loosely, but it’s really important to know what type of sickle cell disease someone has, because you can kind of predict how they may behave. So, again, sickle cell disease is kind of like the family, there are different members of the family and, technically, sickle cell anemia is referring to the SS or sickle beta zero thalassemia type of sickle cell disease.
Alan Anderson, MD: I was just going to add as well, sickle cell disease is the most common inherited red blood cell disorder seen in the United States with over a hundred thousand individuals affected across the US. Here in South Carolina, we see estimated approximately 2,500 individuals affected by sickle cell disease. And, specifically, here in the upstate, we take care of close to 500 and I know even greater numbers there in the Midlands with Dr. Robert’s group as well. So certainly, it’s a disease that affects people that we’re around at work and at school and has a significant number of individuals affected across our state and across the country.
Prakash Chandran: Yeah, Dr. Anderson, I was just going to ask you about that and maybe you can expand a little bit more on who exactly is at risk for sickle cell disease. You know, in doing a little research, I’m seeing that some demographics are affected more than others. So maybe talk broadly about that.
Alan Anderson, MD: Yes. So, the genetic change that’s called sickle cell disease actually comes from areas where malaria is endemic. Malaria is a parasite that gets into the red blood cell and causes damage to the red blood cell and is seen in places that are along the equator. And so that are going to be areas in central Sub-Saharan Africa, parts of India, parts of central and south America. So, anyone who has genetics coming from those regions can be affected by sickle cell disease.
As Dr. Roberts already mentioned, if you get one copy of that gene that causes sickle cell, we call that sickle cell trait. You’re a carrier. And in those places where malaria’s a problem, that is somewhat protective against the malaria parasite getting into the red blood cell. And so, there are more individuals from those area who will have both parents have sickle cell trait or be carriers. And ultimately, those two parents can pass their gene down to a child. And the child has an increased chance of being affected by sickle cell disease.
So within the United States, we see a disproportionate effect of sickle cell disease on the African American community and the majority of patients that we see are African American. That being said, we have high numbers of individuals from the Hispanic American community that are affected one in, I think, around 13,000 Hispanic Americans; one in 365 African Americans are affected by sickle cell disease within the United States. But we don’t just test babies who are of African American descent or other ethnicities. The newborn screening that we do for sickle cell disease tests all babies regardless of their genetic background, their ethnicity, their race, et cetera, because we know that it’s important to diagnose sickle cell disease very early in childhood so that we can do something about it to help protect the child that’s affected.
Prakash Chandran: Now, Dr. Roberts, can you talk about the symptoms that someone might experience if they have sickle cell disease?
Carla Roberts, MD: Sure. You know, the kind of hallmark of sickle cell is pain, and so, you know, the red cell that’s affected with sickle cell disease. And the red cell should be, you know, round and healthy. And if you have sickle cell disease, under certain conditions, those cells can become misshapen like a crescent moon or a sickle shape, hence the name sickle cell disease. And those sickle cells aren’t as healthy and they sort of irritate the vessels throughout the body and blood flows everywhere throughout your body. And so if you have an unhealthy vessel with unhealthy blood flow, you can’t deliver any oxygen to whatever that blood vessel is trying to supply, then that person could experience pain. And it can be, you know, just a little bit of pain they’re treating at home or very severe where they’re having to get treatment in our clinics or in the emergency room or in the hospital with IV pain medication and including the opioids as well as some anti-inflammatory medicine like ibuprofen or an IV form called ketorolac.
But I think a lot of people, you know, don’t realize how much pain these people are having to deal with on a daily basis or a near daily basis at home that they are living with, trying to go to school and work. And so we only see a minority of the pain coming into the clinic or the ER of the hospital. But a lot of them live with this day after day and are quite, you know, remarkable and stoic with their sickle cell disease.
The other problems with sickle cell disease is people, they can be more susceptible to certain infections because the spleen, which I kind of tell people, it’s kind of like a garbage disposal for your body. It helps you get rid of certain infection and old cells and things. It doesn’t work like it’s supposed to, so these children and adults can be susceptible to very severe life-threatening infection. And so that’s what Dr. Anderson was saying, we do newborn screening, so these patients can be started on penicillin to try to prevent one certain germ and then they are treated with that for several years, as well as get multiple vaccines, and we react quickly though to any fever.
These patients can also be at risk for basically things from head to toe, at risk for stroke, even in children. Though, fortunately, we have this ultrasound capability now, so we can detect in children who might be at risk for having a stroke. And so we’ve seen a significant decrease with the interventions that we use whenever we find someone at risk. These patients, they can have eye problems. They have to go to start going to the eye doctor when they’re around 10 years old and older. They can have more problems with sleep apnea. They can have heart problems, kidney problems, liver problems, skin ulcers. So kind of basically really from head to toe and, you know, dealing with this on a daily basis, some of them.
Prakash Chandran: Dr. Anderson, can you talk to us a little bit about the effects of sickle cell disease, especially as you age?
Alan Anderson, MD: Yeah. So, sickle cell disease affects the entire body as Dr. Roberts has already mentioned. And I like to talk to my patients and families about the fact that it’s a chronic illness where the damage to any organ system in the body that needs oxygen, which is every place in our body, starts in childhood and then can progress over time. And so we talk about more severe types of sickle cell disease or less severe types. But really, when we look at the various types, what we’re looking at is a difference in time at which it takes for the damage to become severe enough that then the organ just can’t function the way it should.
And so, we will see in childhood significant increased risk of stroke compared to other children of the same age who don’t have sickle cell disease. We’ll see some problems start to occur within the bones, where you get damage to the bones from lack of oxygen that’s leading to bone pain and chronic bone damage. We get some children starting to show signs of early irritation of their kidneys or irritation of their eyes, et cetera. And what we see over time is that disease progresses or the damage progresses within those organs to the point that, once they reach young adulthood and then older adulthood, we see that patients start showing signs of overt organ failure. And so we will have patients dealing with severe and chronic damage to their lungs that can make them need chronic oxygen therapy. We can see patient’s hearts starting to fail because they’re having to pump against tight blood vessels within the lungs due to the damage of the sickle cells as they move through some of those blood vessels. We can see problems in the brain where adults who’ve had those early signs of damage start when they were children then progress to having aneurysms and risk of bleeding in the brain, associated with problems there. Of course, chronic kidney disease that can lead to dialysis and other major complications as well.
And so really, you know, even though it’s not well understood out in the medical community right now and even in the communities where patients are disproportionately seen, this is a chronic illness that is progressive in the same way that diabetes and hypertension and other diseases are progressive. The issue is that we haven’t in the past had great treatments to try to prevent that progression. But, now, the fun part is that we’re starting to see more and more treatments coming on into the landscape that can potentially have an impact on this disease progression over time.
Prakash Chandran: Yeah. So Dr. Roberts, let’s dive into some of those new treatment options that are coming onto the landscape and just talk broadly about how sickle cell disease is treated, and also if it can be cured.
Carla Roberts, MD: Yeah. So yes, like Dr. Anderson said, thankfully, we have some more medications and treatments that are coming out now for sickle cell disease. We currently have four FDA-approved medications. And they are aimed at their different roles with the disease. The one that’s been around the longest is called hydroxyurea and that medicine is something you take by mouth and every day. And we start that in our infants and toddlers with sickle cell disease in an effort to try to prevent some of these problems or delay the onset of some of these problems. And that medication helps your body to make some more baby blood that you’re born with. And we know that the more baby blood you make, that keeps that red cell round and healthier, and can’t go to the sickle shape. It also has some other beneficial effects on reducing inflammation and other benefits that will help the blood vessel itself stay healthier.
And then fortunately, we had in over the past three years or so three new medicines that have been introduced and FDA approved for people with sickle cell disease. One of those is called Adakveo, which is actually an IV infusion that people get once a month. And that is used to help reduce pain and acute chest and other acute sickling problems. And so, those patients are coming into our clinic once a month for this medication. Another one is called Oxbryta. And that medicine’s taken by mouth and it was created specifically for sickle cell disease. Dr. Anderson’s done lots of work with that particular medication. Very exciting that these drug companies have gotten on board and are now making medications specifically for people with sickle cell disease. But that medicine is taken by mouth every day and that’s currently approved for people that are four years and older. And it helps you not be as anemic with your sickle cell disease, then that has some very beneficial downstream effects. And then, the fourth medicine that’s FDA approved is called Endari, which is approved for young children with sickle cell disease and older, taken twice a day at home, again by mouth, and that’s helped to reduce pain.
Now, as far as a current cure for sickle cell disease, we do have a cure but’s just not widely available. And that’s with a bone marrow or a stem cell transplant. And the transplant process, it can be a bit rigorous to go through. So we recommended that for our patients who have had more severe sickle cell problems and when their bodies are relatively healthy, that they’ve not had some of those issues that Dr. Anderson was referring to, you know, with the effects on the kidney and things, because you wouldn’t be able to handle the transplant as well if your organs were too damaged.
But the problem is it’s best if you get a transplant from a brother or sister who’s a full match and that’s not widely available. Only about, you know, 15%, 20% of our patients have a sibling who would be a good match for the transplant. But what’s exciting though that you don’t have to depend on other people for is gene therapy. And the trials, they started off in Europe before the United States, but we now have the trials ongoing in the United States and the first report of success for gene therapy was published last year. And so for the gene therapy, you rely again on your own body to make it work. And so, I think we’re waiting for some, you know, longer term data to make sure it’s going to be safe and efficacious. But I’ve been telling my patients, “Let’s work on all these with these other medicines that we do have available now, try to keep you as healthy as possible because maybe, you know, gene therapy’s going to become a more widely available treatment in the future. And let’s work on keeping you healthy now, so that you’d be able to get that.” And in the gene therapy trials, it’s kind making people basically like they have sickle cell trait and don’t have the clinical problems that we’ve been talking about.
Prakash Chandran: Yeah, we’re starting to get into this. But Dr. Anderson, I’d love for you to talk broadly about how people can manage living with sickle cell disease and prevent a sickle cell crisis, and also maybe address if there are triggers that can bring on a crisis so they can be aware of that as well.
Alan Anderson, MD: That’s a great question. So what we typically tell our patients and families is that any stress to the body could trigger the change in the shape of the red blood cell that happens in individuals who are affected by sickle cell disease. And not a lot of folks in the community really understand that fact, but some of the hallmark types of stress that we know can trigger sickling, that change in the shape of the red blood cells that can block flow of blood and oxygen could include things like temperature change. And so we encourage our patients to make sure they keep an extra layer with them if they go into the movie theater or restaurant where they may go from hot temperature during the summer into an environment that’s very cold, just that change in temperature by itself could stress the red blood cells enough to cause the change in shape and then ultimately cause some complications like pain. That can happen even in the midst of the summer in a pool. If a child or an adult swims in a pool, drops their core body temperature down to the ambient temperature of the pool, even though that may be 85 degrees, that’s below their body temperature and that can trigger sickling.
And we know lack of oxygen, so in our affected patients, many times, they will try to keep up with peers in playing sports or doing other things and they may get overly winded, drop their oxygen level, and that can trigger sickling. Infection can do that. Certainly, COVID-19, other viruses, other bacteria in our patients can trigger sickling. Other causes of drops in oxygen, like going from sea level to altitude, I’m talking about altitudes above, you know, 8,000 to 9,000 feet, where patients can have a lower oxygen level that can trigger sickling.
One of the things that we haven’t understood as well, but we’re now starting to have a better feel for is that anxiety and depression can also trigger complications with sickle cell disease. And we think that’s at the basic level of just triggering that shape change in the blood cell. We know with COVID-19, we’re seeing much higher rates of anxiety and depression. And of course, that is having some effect on the amount of complications our patients are seeing with sickle cell disease as well. And so we’re trying to somewhat normalize depression and anxiety in chronic illness like sickle cell, so that we can encourage patients to open up about their feelings and that we can plug them into treatments.
In terms of how do you prevent some of those stressors, you know, as I’ve talked about that list of things, some of those, our patients can’t necessarily prevent. They can try, but they can’t a hundred percent stay away from some of those triggers. But we do talk about a couple things. One is the idea of wellness in general, is very important for those with sickle cell disease in a similar way that it would be to others with chronic illness. And so we talk about proper diet, you know, looking towards what we would expect of a good diet to be for others. That would be, you know, lean meats, and vegetables, that is of course important. Lots of antioxidants in the fruits and vegetables that we can get in our bodies. And that’s going to be be important. Sickle cell disease is an inflammatory condition at baseline because the red blood cells are breaking down, releasing all these inflammatory products into the body.
We talk to our patients about trying to use mild and moderate activity levels and not to push themselves past the point of being able to carry on a conversation with those around them. So when I’m discussing exercises with my patients, I usually say, “Start off slow and build out foundation. Make sure that when you’re doing any activity, you can carry on a conversation very easily with someone with you without getting overly winded.
We talk to our patients all the time about making sure they’re staying well-hydrated. So dehydration in the body can lead to sickling. And so we want to make sure that our patients are drinking extra amount of water. You know, they’re needing to drink, in our young adult and adult populations, as much as three 32-ounce water bottles in a day. And then, above that, monitoring their urine to make sure their urine is staying clear using the urine color as a good marker of what their hydration status is. So hydration can have a significant impact on the disease process. And then, I think just I mentioned already, management of anxiety and depression, I think, is a huge part of this as well. That can help patients to have less severe disease complications when their mental health is under better control.
Prakash Chandran: So Dr. Roberts, we’ve just learned about some tools and tips to, you know, potentially prevent a crisis. But what should one do if they’re having a sickle cell crisis and at what point should they go to the ER?
Carla Roberts, MD: Sure. So we want to make sure that they have been educated about the pain crises and make sure they have tools at home to try to treat that because, you know, like we mentioned earlier, most painful crises are actually treated at home. And so, when a person starts having pain, we would recommend they start maybe with just plain Tylenol and some ibuprofen. And if that pain is more severe, then they need to add a narcotic in to their pain regimen. And unfortunately, with the opioid crisis that has happened in the United States, that has had a negative impact on some of our patients being able to get medication or being stigmatized. But, you know, we work hard on a daily basis to try to minimize that stigma for them. And as on Dr. Anderson said too, as an addition to the medication treatment, hydration is super important for these patients to try to prevent pain, to stay hydrated all the time. But then, when they’re having a painful episode at home, to try to drink plenty of water. And we like to try to stay away from a lot of the salty drinks, such as Gatorade, a little bit of Gatorade’s okay. But stay away from too much Gatorade because that salt actually could cause for the dehydration of that red cell.
And then, when the pain though is unbearable or if they have other things with their pain crisis, like if they have fever along with it, or if they have difficulty breathing, then it’s time to go to the emergency room. And in the emergency room, we want them to be treated promptly because there could have a serious underlying infection going on that can actually be life-threatening. So we wanted to make sure that they get seen and get treated quickly, one, for their comfort, for their pain, but also, two, to make sure there’s not a life-threatening problem that’s going on along with their pain. And in the emergency room, they’ll usually start an IV and give those same types of medications, so the ibuprofen, the anti-inflammatory, but given IV form, and then give an IV form of an opioid a narcotic such as morphine or Dilaudid. And then, they tend to get some fluids in the emergency room as well if they’re dehydrated.
Prakash Chandran: So Dr. Anderson, if someone is listening to this and they have a loved one or a friend with sickle cell disease, what is the best thing that they can do to support them?
Alan Anderson, MD: Yes. So I think that when we look at any patients with chronic illness, like sickle cell disease, what they need is support from their caregivers and loved ones. And so if you know someone who’s affected by sickle cell disease, I think the biggest thing that you can do is just be in their court, you know, be to support them when there are those times, when they’re dealing with a painful episode at home. They may need someone who can run errands for them who can do some laundry for them. They may also need someone who’s going to be in their court if they’ve experienced stigma if they’ve been in situations in the community where people don’t know about sickle cell disease. They can have a loved one, friend, another caregiver who can start to put out better education about sickle cell disease within the community.
Many of our patients have difficulty with transportation, or they may be dealing with pain. They may be taking narcotic pain medications that could impair their ability to drive. And so if you know someone with sickle cell disease, certainly you could offer to drive them to appointments. You could offer to drive them for other needs that they may have in the community where they live and work, and so that can certainly be helpful as well. And I think that one of the things that caregivers’ friends can do as well is just become as educated about the disease process as they can, and to help spread that education around to the community. What we know about sickle cell disease is that the first molecular-based, genetic-based disorder that was discovered affecting the red blood cell in about 1910, and yet there’s been very little understanding in the community. about the disease process. This is not only in our medical communities, but out in the communities where patients live and work. And so I think sort of dispelling rumors about sickle cell disease, helping to get rid of the stigma that exists in various locations where patients are seen who are dealing with sickle cell disease, these are all things that our champions within the community can help us to sort of improve education about the disease and make sure that people are aware of what sickle cell disease is and what it can do and it’s debilitating nature to those who deal with it on a day to day basis.
Carla Roberts, MD: And then, I would also add to advocate for blood donation. You know, many of our patients with sickle cell, they require blood either on an ongoing basis or periodically for stroke prevention. If they have a something called acute chest syndrome, they may require a transfusion. If they get more anemic from infection, they may require a transfusion. And the blood that they need has to be especially matched, not just for your main blood type, such as your A, B or O blood type, but there are other identifiers that we want to match up for. And most of our patients, not all, but many of them are African American and would have the best chance of having better matched blood from some people in the African American community. And so, increasing blood donations in the African American community would be very beneficial and helpful for our patients. You know, one of our patients, for his birthday every year, they host a blood drive to give back. Of course, he’s required blood whenever he was younger and they’re trying to raise awareness and raise donations.
Prakash Chandran: Yeah, that’s wonderful pieces of advice. Thank you so much for that. Just as we close here today, Dr. Anderson, I’d love for you to just talk broadly about the support that Prisma Health offers for sickle cell disease patients.
Alan Anderson, MD: Yes. So we have treatment centers for sickle cell disease, both here in the upstate of South Carolina and in the Midlands of South Carolina. Here in the upstate, we have an all-ages program. So that means that when we say the word lifespan, that means we take care of babies all the way up through adulthood. My oldest patients are in their upper 70s. And and so we see all ages in the same clinic, under the same roof with the same dedicated team. So that’s a little different in terms of a model across the southeast, but that is what we have here to be able to take care of the needs of individuals affected by sickle cell disease. In the Midlands, we have both the pediatric program that Dr. Roberts runs. And then, there’s an adult sickle cell disease medical home, as well as infusion center for patients here in the Midlands. Both of our comprehensive programs have capabilities of transfusion, pain medicine infusion, antibiotic infusion; apheresis, which just means taking away blood and giving back blood at the same time in order to decrease the amount of sickle cells that are circulating in the patient at any given. So all those treatment capabilities are available for patients across both areas of Prisma Health that we have for our patients right now. We also have capability to screen for sickle cell trait, to provide counseling for sickle cell trait at our centers here in the upstate and in the Midlands as well.
Carla Roberts, MD: And I’d like to add to that Prisma helps support programs outside of the four walls of the hospital. We’ve not been able to have camp recently due to COVID hopefully next summer, but we started a camp specifically for children with sickle cell disease, as well as other blood disorders. And it’s been wildly successful. And it’s the first time that lot of parents have allowed their children to spend the night elsewhere and they felt safe with with all the medical staff there that they know. But at camp, we focus on how we I think live responsibly, play responsibly. Many life lessons are learned at camp. Prisma also helps to support. We have a teen group as well as family support groups as well. And so, you know, we work within our clinics, but also try to take care of the whole family. It’s a whole team approach and inclusive of the family including outside of the four walls of the hospital.
Prakash Chandran: Well, Dr. Anderson and Dr. Roberts, thank you so much for your time today. This was a truly informative conversation.
Alan Anderson, MD: Thanks for having us.
Carla Roberts, MD: Thank you.
Prakash Chandran: That was Dr. Alan Anderson, Director of the Comprehensive Lifespan Sickle Cell Disease Program at Prisma Health and Dr. Carla Roberts, Director of the Pediatric Sickle Cell Disease Program, also at Prisma Health. For more information, you can visit our website at PrismaHealth.org. And to listen to other podcasts just like this one, you can head over to PrismaHealth.org/Flourish. This has been Flourish, a podcast brought to you by Prisma Health. My name’s Prakash Chandran. Thanks again and be well.Read More
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