RICHMOND, Va. — September is National Sickle Cell Awareness Month.
Sickle cell affects 100,000 people in the United States, primarily impacting African Americans.
To learn more about the genetic blood disorder, we sat down with Dr. Nadirah El-Amin, a pediatric hematology and oncology expert at the Children's Hospital of Richmond at VCU — one of four comprehensive sickle cell centers in the state.
Click the video player below to watch the full interview.
How many sickle cell patients are there in the U.S., and how many children does your clinic serve?
In the United States, there are about 100,000 patients with sickle cell disease, and in our clinic here in Richmond, we see about 320 pediatric patients with sickle cell disease.
What does sickle cell disease actually mean?
Sickle cell disease is a genetic condition, and it causes the red cells to be formed abnormally in a crescent shape, and that abnormal red cell, that crescent shaped red cell, causes a variety of complications in a patient with sickle cell disease. It can cause anemia, and patients may need transfusions in order to cure that or treat that anemia. It can cause painful episodes, which is probably what people most think of when they think about sickle cell disease, because those red cells can get stuck in those blood vessels, and that causes a lot of pain for patients, and sometimes they have to be admitted for IV pain medication, it can cause organ damage and organ failure. So basically, everywhere your blood goes, it can be affected by sickle cell disease. All organs are potentially affected by sickle cell disease. It can cause stroke, and unfortunately, in some cases, it can cause death as well.
What do you tell parents when they find out their child is diagnosed with sickle cell?
I let parents know that sickle cell disease is not a one size fits all disease. It definitely depends on the type of sickle cell disease you have. And I also let them know that the benefit of having sickle cell disease now is that we do have treatments and things that can help mitigate some of the complications of sickle cell disease. And so with consistent care, seeing your hematologist, taking your medications, you can live a very long and overall healthy life. There may be some complications, but your child's potential is still there. As long as you seek care at a hematologist, and all the dreams that you have for your child can still be achieved. So we try to just remind patients that this is a disease that people can live with and can live a good life with, with certain interventions, of course.
What treatments are available now that weren’t available 20 years ago?
Some of the biggest advances include vaccinations, [which] are very important for our patients. One of the common causes of early death in sickle cell disease was infection. So now we have vaccines that help with that. And we also have penicillin, which most of our patients are on for a certain period of time to help with that risk of infection. We have hydroxyurea, which is the most common drug we use to treat some of the complications of sickle cell disease, and that has considerably increased lifespan for our patients. And now we also have curative options for patients as well.
Why do symptoms change throughout some sickle cell patients’ lives?
Sickle cell disease is interesting in that manifestations of it can change as you age. So we do know that certain complications are more common in younger patients, swelling of your hands and your fingers is one of them called dactylitis. And then as the child ages, those complications can turn into something different, so pain crises, where they're having pain in any part of their body that might require opioids or IV medication. And then as you get older, that can change into organ damage or kidney failure. And so we're not exactly sure why that happens, or why those changes happen, but we suspect that it's the burden of disease over time, and that impacts how the disease expresses itself over time.
Can you describe the pain of sickle cell disease?
That's a hard question, because a lot of patients will describe their pain very differently. You know, it comes back to the whole, sickle cell disease is not a one size fits all disease. So some patients will experience it as a throbbing pain, a dull pain. Some patients will express it as a sharp, stabbing pain. It really just is patient-dependent on how they feel like their sickle cell disease pain is expressed, and this is why it's very important for us to listen to our patients and not assume that pain can only look a certain way, because it does present very different for all of our patients, and we have to be aware of that as physicians.
When it comes to twins, how might their experience with sickle cell differ?
This is one of the fascinating things about sickle cell disease, is that it doesn't always look the same, even if you're siblings, even if you're twins, and we don't really have a way to predict what complications you are going to get, even if you have the exact same disease as your brother. And so it's not uncommon for one patient to have a lot of pain episodes, and one patient to have very few pain episodes, but a lot of anemia. And that is just the kind of wide variety of complications that we get with sickle cell disease. And it can be frustrating for parents, because we have no way of telling them, you know, this is what you can expect. We say, here are all the things that could possibly happen, and we have to wait for your child to grow up and see what kind of complications that they will get. So you would think that the boys would have the exact same presentation, but that is not typically what we see in sickle cell disease.
What is dactylitis?
Dactylitis is a complication of sickle cell disease that we tend to see in younger sickle cell patients. So usually infants, and it presents as swelling of the hands and the feet. We say they can look like sausage fingers, so baby will wake up and have really swollen hands, really swollen feet, they'll be red, they'll be hot, and the child will be very uncomfortable because it's painful. So it's basically like an early pain crisis in an infant. Sometimes we can manage that with oral pain medications. Sometimes we need to bring the child in for IV medications, depending on the severity of the of the pain crisis.
How difficult is it to manage pain for younger sickle cell patients?
Yeah, it can definitely be difficult. Like you said, there's a limit to communication you can have with your child, and so we try to teach parents about these side effects so that they can be vigilant and pay attention. But what we do tell our parents is, if you're unsure, just call us. We are available, 24/7, in some capacity, and we understand that this is new to them as well when you have a young child with sickle cell disease, and so we don't expect them to know everything, but we are here to support them through that and say, you know, actually, this does sound like it could be something. Why don't you bring your child in for us to evaluate, and we'll go from there. And with time, you learn your child, you kind of learn their symptoms, their triggers, and it becomes easier for parents to identify when their child might be in pain. But it's definitely a learning process.
What causes yellow eyes for people with sickle cell?
The yellowing of the eyes is because of the breakdown of the red blood cells, because those cells are deformed. Basically, they don't last as long as a normal red blood cell, and your body breaks them down. And so when your body is breaking down those red blood cells, it releases a pigment, and that pigment can cause your eyes to become yellow, your skin to be yellow as well.
Why does sickle cell prohibit you from being active in sports?
Different people can have different triggers for their sickle cell disease, but there are some that can tend to be across the board. So we do know that anything that stresses the body can trigger a pain crisis. So changes in temperature is something that can cause stress on the body and that will lead to a pain crisis. So jumping into a cold pool on a hot day, you go from a hot temperature to a cold temperature that can stress the body and can cause a pain crisis. And so everyone's triggers are different. For some people, that might not bother them, and for others, it will. And it again, goes back to the fact that sickle cell disease is just very variable in how it presents in patients, but unfortunately, it can impact some people's ability to be active, not everyone's, you know, if you have heart disease as part of your sickle cell disease, that might inhibit you from being active, if you get a complication called avascular necrosis that might cause pain in your hips and keep you from being being able to be active in sports. And so it definitely depends on the complications that you develop, how, as far as how much you are limited in the activities that you're able to do. But there are, we have a patient who is a track runner, so it is possible for you to still be athletic and be involved in activities. But you know, unfortunately, there are some patients that are limited by the complications from their sickle cell disease.
Why do flare-ups occur in the colder months?
It goes back to the stress on the body. So the colder temperatures tend to be something that stresses a lot of our patients. And we will see kind of an uptick in admissions for pain crises or requests for pain medicine during the winter months, just because the cold is a trigger for the disease to become more active, and then you have more complications and pain from that, unfortunately. So we tell our patients, bundle up if you are going outside, wear two sweaters, a coat, a scarf and a hat and some gloves to, you know, to kind of prevent those complications from happening.
How do you discuss mental health with younger sickle cell patients?
We definitely want to make sure that we're screening all of our patients for depression or anxiety so that we can get them connected to resources to help manage that. We want to acknowledge that, yes, there may be some limitations that you have because of your sickle cell disease, and that might make you feel different. And nobody loves feeling different, but there's also strengths there too. You know, you have had to deal with adversity in a way that a lot of people don't, and that can be a place of strength for you. We try to create a sense of community. So there are other people who have sickle cell disease, and it's helpful to be around those people, so we have events where they can interact with other folks who have sickle cell disease, so that they feel a sense of community and don't always feel different from others. But it is very important for us to kind of remember that we're not just treating a disease as far as the body, you know, but also the mind as well. And so we do try really hard to focus on mental health in our clinic, to provide a space for patients to talk about their concerns and their worries and the things that are bothering them, as far as being a child with a chronic disease, and then also providing resources for them, for them like a therapist and things like that, so that we are helping them navigate the difficulty of living with a chronic disease.
How important is it for people with sickle cell to be aware of what they eat and drink?
It's very important. And as you mentioned, these kids usually have to learn about that a little bit earlier than some other children, because how they eat, whether or not they drink water, all these things can impact their sickle cell disease in a negative way. So for example, being dehydrated is a reason to cause stress on your body, and can lead to a sickle cell crisis. So yes, absolutely, bring your water bottle to school, and we stress those things in clinic. We always want you to eat healthy, even if you don't have a sick sickle cell disease, we would encourage that. But you know, adding obesity to the picture or high cholesterol to the picture when you already have sickle cell disease is just adding more comorbidities. So it's even more important for these patients to kind of be thoughtful about the kinds of things that they're putting in their bodies and exercising and all of that. So we want our patients to be thinking about that.
In a general sense, how would you describe a sickle cell patient?
For some of our younger patients, you probably wouldn't be able to tell that they have sickle cell disease. A lot of the complications of sickle cell disease tend not to show up until around school age and a little bit further down the road. You can miss the fact that kids have sickle cell disease if you're not really paying attention, but one of the ways that it can show up is frequent school absences. So these kids have to come to their doctor's office. Sometimes they have to come to the hospital for management of complications. The yellowing of the eyes that Gabe mentioned, you know, if you see a child who looks very yellow or has, you know, the yellowed eyes, that could be a sign that they have sickle cell disease. But otherwise it can sometimes appear to be invisible to the naked eye, if you are not, if you don't. You know, know the things to look for, for sickle cell disease, and I think that's, you know, one of the reasons why it's kind of can be easy for some of these patients to blend in, but still have a very different experience from the kids that are, that are around them.
What is the long-term outlook right now for patients with sickle cell?
The long term outlook is pretty good. Of course it means that you have to be participating in your health and coming to your doctor's appointments and taking your medicines, and if you do that, then we can get you to potentially a long, healthy life. You know, the life span for sickle cell patients used to be in their 30s, but now we're seeing patients who are living till 60, 70, 80, and being treated on the adult side. So it's no longer, it doesn't have to be any longer a childhood disease. It can be a disease that you live with for the rest of your life. But of course, you have to make certain decisions about how you manage your health in order to do that. I also think this is a very exciting time to have sickle cell disease, because there is more awareness about sickle cell disease, and more people are doing research into sickle cell disease, and we understand more about sickle cell disease than we ever did, and now there are curative options and new medicines being developed. And so you know what sickle cell disease looks like. I think is going to be even better moving forward, because we are now having people who are more aware of the disease and people who are advocating for more research dollars and visibility.
How does someone know if they would be a candidate for something like CRISPR?
Gene therapy in general is the newer curative option for sickle cell disease and some forms of gene therapy have now become commercially available, which means that you don't have to do it on a trial, which is great. So that's allowing more people to have access to that curative option. There are some standards that you have to meet about a certain amount of pain crises, and also there are age limits and things like that. And so we have a transplant team who is happy to consult with anyone who is interested in curative therapy. And we are making consults to them, you know, all the time, because we want our patients to know all the options available to them. So if someone expresses interest, or sees something on TV and says, What is this? I heard this thing that, you know, I might be able to do, then we send them right over to the transplant team, let them hear all about their options, and they can make the decision if that's what's best for them in their family.
What would you share with someone who is thinking of starting a family, but is not sure if they have the sickle cell trait?
Knowledge is definitely power. So if you are wondering and you don't know, it is a very simple, easy test to get. In order for you to figure out whether or not you have sickle cell trait, a pregnant woman can easily go to her OBGYN and ask to be tested for sickle cell trait. And then, you know, any individual can see their primary care doctor and say, I'm not sure if I have sickle cell trait or not, and ask to be tested. So I would say, if there is a question, it is definitely important to find that out, that answer out before you decide to have children. And then we also have newborn screening in Virginia. And so nowadays, most patients should know whether or not they have sickle cell trait, but if not, we can always go back to the records and help find out for them if they're unsure if they were born in Virginia.
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