Sickle cell disease (SCD) is a chronic, genetic blood disorder which causes painful attacks (sickle cell crises) that can be difficult for patients to manage. Patients with SCD over their lifetime can have problems which affect practically every part of the body.
Dr. Amy Sobota discusses SCD, diagnosis, genetic traits, treatments available, and how important pediatricians and specialists are to the transition from pediatric to adult care for patient with Sickle Cell Disease.
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Sickle Cell Disease: Tips for Transitioning Care
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Learn more about Amy Sobota, MD, MPH
Amy Sobota, MD, MPH
Amy Sobota, MD, MPH, is a pediatric hematologist and medical oncologist at Boston Medical Center. Her specialties include sickle cell disease, iron deficiency, menstrual disorders, general pediatric hematology. Dr Sobota graduated from the University of Wisconsin at Madison and completed her resident at Children's National Medical Center in Washington DC where she was also Chief Resident. In addition to treating pediatric patients with sickle cell disease, she also co-runs the menstrual disorder clinic at BMC.Learn more about Amy Sobota, MD, MPH
Transcription:
Sickle Cell Disease: Tips for Transitioning Care
Melanie Cole (Host): Sickle cell disease is the most common genetic disorder in the United States and my guest to talk about this today is Dr. Amy Sobota. She’s a pediatric hematologist and medical oncologist at Boston Medical Center. Dr. Sobota, what is sickle cell disease. We’ve heard this term but not everybody knows what it is.
Dr. Amy Sobota (Guest): Right absolutely so sickle cell disease is an inherited disorder and I think that’s important to know. It’s not something that anybody can catch or that they develop, and what it means is that a person has inherited a gene that makes some of their red blood cells change shape under certain circumstances. So normally our red blood cells are nice and round and flexible and they go through the blood vessels easily. Individuals with sickle cell disease have red cells that can change shape and be shaped like a sickle. I tell my pediatric patients they’re sharp and pokey and those blood cells can kind of get clogged in the small blood vessels which means that the oxygen doesn’t get to the tissues around the body.
Host: So who is at risk? Is there a way to determine risk if people do not know if they carry an abnormal hemoglobin gene? Does it affect different races? Speak about the risk factors.
Dr. Sobota: Sure so I think that’s a little bit of a nuanced question. So typically we think of this disease as being more prevalent in certain races. The gene for sickle cell trait is evolutionarily protective for malaria so this tends to arise in populations sort of overlying the malaria belt. So we tend to see this in African Americans, people from India or the Middle East, people from the Caribbean. However, over time we know that this gene has shifted and so you can no longer just screen certain populations. Anybody could be at risk because a lot of us don’t necessarily know where our genes came from a generation or two ago. It is true that in the United States, most individuals with sickle cell disease are racial minorities and that absolutely affects access to care and really plays into a lot of the help disparities that individual’s face. But screening needs to be universal and so in the United States for about the last 20 years, every state has screened every newborn for any type of sickling disorder. So if you were born in the states in the last couple of decades, we have access to those records and everyone would know if they are a carrier or if they have sickle cell disease. If for example you move to the United States when you were older and you don’t know if you were tested or you don’t know what your risks are, there is a simple blood test that can be done, it’s called a hemoglobin electrophoresis and it just looks at the types of hemoglobin in your red blood cells and that’s something that I would recommend to people, especially individuals of African or Caribbean decent before they decide to have children so they know what the risks are of passing this on to their children.
Host: What are the risks of passing it on to your children? What are the percentages that your child will have one if you carry this gene?
Dr. Sobota: So it depends on both parents having the gene and I don’t know if you or any of the listeners remember doing those Punnett squares in health class where you have the short P’s, the tall P’s and eye color, hair color. So sickle cell disease is a strictly autosomal recessive trait. That means in order to have sickle cell disease you need to have inherited one copy of the sickle gene from your mother and one copy of the sickle gene from your father. And for two people if they both have sickle cell traits, there’s a 25% chance for each pregnancy that the child would have sickle cell disease.
Host: And now if you do detect that someone has it and the baby gets screened, what do you do for it? Is it treatable? Is it something that you start when the child is a baby and work through? Tell us a little bit about what the treatment is.
Dr. Sobota: Yes absolutely. So we do have very good treatments that do start in infancy and in fact that was what drove all of the states to institute newborn screening, universal newborn screening because we know that there’s things that we can do, even in those first few months of age that are life saving. So unfortunately about a generation ago, children born with SS, the most severe form of sickle cell disease, had a fairly high mortality rate in childhood. We would often see children come in undiagnosed and die from sepsis and overwhelming infection. Now that we screen everybody at birth, we can prevent most of those deaths and those infections. So right away, as soon as we know that a child has sickle cell disease, we put them on prophylactic or preventative antibiotics from a few months of age. In sickle cell disease the spleen doesn’t work well and one of the spleen’s job is to filter out bacteria from the blood, and so with the spleen not working well, we can put somebody on a small daily dose of penicillin which can prevent those serious infections from taking hold. So we do that right away at diagnosis. A few months after that, we can start a medication called hydroxyurea that’s been around for quite a while and has shown remarkable effects in treatment of sickle cell disease. In adults who started on it as grownups, their rate of complications and even deaths was cut in half. We think the benefits may be even better when we start it in childhood. So right now we recommend that everybody with sickle cell disease start hydroxyurea at 9 months of age, and I know that sounds really young but it’s because those red blood cells in little babies don’t sickle. So babies are born with something called fetal hemoglobin from when they were a fetus and that is a really strong type of hemoglobin that does not sickle, and so by starting this hydroxyurea at a young age, we can keep that fetal hemoglobin around for longer, and so those children don’t have the sickling of the red blood cells, and therefore don’t have many of the complications that come with sickle cell disease.
Host: That’s so cool.
Dr. Sobota: Isn’t it? It’s really amazing and you can actually see – I love this, you can see the changes in the red cells under the microscope, so if you look at the blood of somebody with sickle cell disease, you see all of these cells that are sort of crescent moon shaped and then as people take their hydroxyurea and you look at the red cells under the microscope, the cells are bigger and plumper, and juicer and healthier. I tell some patients it’s like going from a raisin to a grape. They just plump up and they’re healthier and stronger and it’s actually visible that you can see, which is absolutely amazing.
Host: Wow, that is absolutely fascinating. So as children are growing, what types of care, comprehensive care do they need? What type of providers are involved, Dr. Sobota, as a child grows?
Dr. Sobota: So that’s a great question. Obviously pediatricians are going to be involved in the care of any child because children with sickle cell disease just like any kid has other medical needs and a pediatric office is often the family’s first line but pediatric hematologist, or blood doctors like I am are an integral part of caring for these because their sickle cell disease affects everything. So if you think about it, the blood goes through the entire body. The blood goes into every organ in our body and therefore sickle cell disease effects every organ in the body, and so one of the things that we do as pediatric hematologist is we do a lot of preventative care. We talk about ways to prevent complications. We do a lot of screenings so we can detect complications as early as possible. Sickle cell disease is still fairly rare, so an average pediatrician may only have one patient in their practice with sickle cell disease. We have hundreds here at Boston Medical Center so we do this every day, and so we definitely recommend that every child with sickle cell disease see a hematologist and ideally at a comprehensive center where we have other specialists. So for example, plenty of children with sickle cell disease also have asthma, and as you know asthma impacts the breathing and how much oxygen the lungs bring in and you can imagine if you have problems with your oxygen and problems with your red cells that deliver the oxygen, that can cause even more complications. Just as one example, we partner very closely with our pulmonologist, our lung doctors here at Boston Medical Center, to make sure that we’re treating both asthma and sickle cell disease to have the best outcome for the patient. As the kids get older, we also deal with a lot of things in our sickle cell clinic that aren’t necessarily at first glance, directly medically related. So for example, some of the things that can prompt those red cells to turn into the sickle shape and thus cause pain or other complications is dehydration, exposure to cold and when you think about it as kids get to be school aged, they’re out waiting for the bus, they may not have access to water at school, we provide families with paperwork for example for a 504 plan to take to their school so the kids can get the accommodations that they require to stay healthy at school, having a water bottle at their desk, having door to door transportation, perhaps being able to wear a jacket in school if its cold. So some of those things that may not at first glance seem like a big deal can make an enormous difference in the quality of life of a child with sickle cell disease, and because we do this so often, we can advise families on how to advocate for their kid because we want them to lead normal, healthy carefree lives as much as possible.
Host: So now a child is transitioning from that pediatrician and their well visits and all of these different pediatric specialists into an adult and so what’s involved in that transition of care and how does that happen?
Dr. Sobota: So that’s an enormous topic and I think of it as two separate prongs. So one is the actual transfer. So at some point, I’m a pediatric hematologist and I’m very, very good at that and I don’t treat adults and I shouldn’t be treating adults so at some point the patient needs to transfer their care to a specialist who has the appropriate knowledge of adults. One of the challenges for our patients with sickle cell disease is there are not a lot of adult hematologists with an interest or an expertise in sickle cell disease. We are very fortunate here at Boston Medical Center to have an excellent adult program with people who love to take care of these patients, but around the country that’s not always the case. So finding the right doctor, somebody who has that expertise, who knows what to look for as patients get older, who knows the screening that patients need or the treatment they need, finding that provider and making sure that their records get moved over is really important. But I think perhaps the biggest part of transition is that whole process, right? So we’re not only transitioning somebody to adult care, we’re really transitioning a child, who for their entire life has had care really managed by their family and their doctors to an adult who needs to be more independent. So I sometimes tell my patients, it’s like going from nursey school to college. You don’t expect in college to have a nap and a snack every day, you have to get yourself to class, nobody ties your shoes for you and that’s the way it should be, and that happens in life as people make transitions from one level of school to the next. Maybe being old enough to be home alone for a little while, and in medical care it’s the same thing. We need to gradually teach our adolescent and young adult patients how to manage their own health, how to advocate for themselves for example. So instead of their parent going into school to talk about what accommodations they need, maybe they need to go to the office at their college and talk about accommodations or maybe they’re getting their first job and want some guidance in how do they talk to their boss about how to stay healthy at work. Maybe their mom has always reminded them take their daily hydroxyurea. Now that they are a teenager they want to do it themselves but they don’t really have those patterns yet. We all now that teenagers don’t always make the best long term decisions so one of our jobs in pediatrics is to really help those young adults grow into mature, responsible adults who can manage their health on their own. That’s one of the reasons we have a transition clinic here at Boston Medical Center specifically for those young adults where we try to move from some of the hand holding we do in pediatrics to allowing them to become more independent but still with that safety net under them, so as they stumble occasionally as they’re learning these new skills, we’re there to brush them off and remind them what they should do and not let them completely fall through the cracks.
Host: What an amazing way to look at it and the importance of the role of the pedestrian and the pediatric specialist in that process of transition of care and the way you’ve described it Dr. Sobota is just absolutely perfect. So wrap it up for us, what you would like the listeners to take away from this segment and to let the listeners know what else is important about sickle cell disease and what you want them to know.
Dr. Sobota: This is a little bit of a step back from the medical information but there’s still a lot of misinformation and unfortunately a lot of stigma in the community about sickle cell disease so I think raising awareness is incredibly important. I mentioned at the beginning it’s an inherited disorder, which means people are born with it and yet I still hear patients say, even if they go to a hospital that doesn’t take care of a lot of patients, they’ll say oh how long have you had sickle cell disease? There’s also a lot of misconceptions out there about what it means to have sickle cell anemia and so I think the first thing for any of your listeners, this is a disease that people are born with just like so many others. It’s not something that anybody can catch and it’s nothing that anybody should be ashamed of. Having said that, sickle cell disease can be a terrible and debilitating illness and it’s really important for children and adults to have comprehensive care, but not only in a medical setting, at home, at work, at school, out in the community. Not all disabilities are visible and so it may be that somebody with sickle cell disease is having a lot of pain and that’s why they’re having trouble getting to the grocery store or perhaps the child has had a stroke and that’s why they’re not doing as well at school, and so just keeping in mind that people can have sometimes those silent disabilities and dealing with their chronic disease on a day to day basis can be exhausting and doing everything we can to support those people.
Host: Wonderful information, Dr. Sobota. Thank you so much for joining us today and for sharing your expertise and wonderful ways that the pediatric specialists are helping to transition these kids into adults with sickle cell disease. Thank you again for being with us. This is Boston Med Talks with Boston Medical Center. For more information you can go to bmc.org, that’s bmc.org. This is Melanie Cole, thanks so much for listening.
Sickle Cell Disease: Tips for Transitioning Care
Melanie Cole (Host): Sickle cell disease is the most common genetic disorder in the United States and my guest to talk about this today is Dr. Amy Sobota. She’s a pediatric hematologist and medical oncologist at Boston Medical Center. Dr. Sobota, what is sickle cell disease. We’ve heard this term but not everybody knows what it is.
Dr. Amy Sobota (Guest): Right absolutely so sickle cell disease is an inherited disorder and I think that’s important to know. It’s not something that anybody can catch or that they develop, and what it means is that a person has inherited a gene that makes some of their red blood cells change shape under certain circumstances. So normally our red blood cells are nice and round and flexible and they go through the blood vessels easily. Individuals with sickle cell disease have red cells that can change shape and be shaped like a sickle. I tell my pediatric patients they’re sharp and pokey and those blood cells can kind of get clogged in the small blood vessels which means that the oxygen doesn’t get to the tissues around the body.
Host: So who is at risk? Is there a way to determine risk if people do not know if they carry an abnormal hemoglobin gene? Does it affect different races? Speak about the risk factors.
Dr. Sobota: Sure so I think that’s a little bit of a nuanced question. So typically we think of this disease as being more prevalent in certain races. The gene for sickle cell trait is evolutionarily protective for malaria so this tends to arise in populations sort of overlying the malaria belt. So we tend to see this in African Americans, people from India or the Middle East, people from the Caribbean. However, over time we know that this gene has shifted and so you can no longer just screen certain populations. Anybody could be at risk because a lot of us don’t necessarily know where our genes came from a generation or two ago. It is true that in the United States, most individuals with sickle cell disease are racial minorities and that absolutely affects access to care and really plays into a lot of the help disparities that individual’s face. But screening needs to be universal and so in the United States for about the last 20 years, every state has screened every newborn for any type of sickling disorder. So if you were born in the states in the last couple of decades, we have access to those records and everyone would know if they are a carrier or if they have sickle cell disease. If for example you move to the United States when you were older and you don’t know if you were tested or you don’t know what your risks are, there is a simple blood test that can be done, it’s called a hemoglobin electrophoresis and it just looks at the types of hemoglobin in your red blood cells and that’s something that I would recommend to people, especially individuals of African or Caribbean decent before they decide to have children so they know what the risks are of passing this on to their children.
Host: What are the risks of passing it on to your children? What are the percentages that your child will have one if you carry this gene?
Dr. Sobota: So it depends on both parents having the gene and I don’t know if you or any of the listeners remember doing those Punnett squares in health class where you have the short P’s, the tall P’s and eye color, hair color. So sickle cell disease is a strictly autosomal recessive trait. That means in order to have sickle cell disease you need to have inherited one copy of the sickle gene from your mother and one copy of the sickle gene from your father. And for two people if they both have sickle cell traits, there’s a 25% chance for each pregnancy that the child would have sickle cell disease.
Host: And now if you do detect that someone has it and the baby gets screened, what do you do for it? Is it treatable? Is it something that you start when the child is a baby and work through? Tell us a little bit about what the treatment is.
Dr. Sobota: Yes absolutely. So we do have very good treatments that do start in infancy and in fact that was what drove all of the states to institute newborn screening, universal newborn screening because we know that there’s things that we can do, even in those first few months of age that are life saving. So unfortunately about a generation ago, children born with SS, the most severe form of sickle cell disease, had a fairly high mortality rate in childhood. We would often see children come in undiagnosed and die from sepsis and overwhelming infection. Now that we screen everybody at birth, we can prevent most of those deaths and those infections. So right away, as soon as we know that a child has sickle cell disease, we put them on prophylactic or preventative antibiotics from a few months of age. In sickle cell disease the spleen doesn’t work well and one of the spleen’s job is to filter out bacteria from the blood, and so with the spleen not working well, we can put somebody on a small daily dose of penicillin which can prevent those serious infections from taking hold. So we do that right away at diagnosis. A few months after that, we can start a medication called hydroxyurea that’s been around for quite a while and has shown remarkable effects in treatment of sickle cell disease. In adults who started on it as grownups, their rate of complications and even deaths was cut in half. We think the benefits may be even better when we start it in childhood. So right now we recommend that everybody with sickle cell disease start hydroxyurea at 9 months of age, and I know that sounds really young but it’s because those red blood cells in little babies don’t sickle. So babies are born with something called fetal hemoglobin from when they were a fetus and that is a really strong type of hemoglobin that does not sickle, and so by starting this hydroxyurea at a young age, we can keep that fetal hemoglobin around for longer, and so those children don’t have the sickling of the red blood cells, and therefore don’t have many of the complications that come with sickle cell disease.
Host: That’s so cool.
Dr. Sobota: Isn’t it? It’s really amazing and you can actually see – I love this, you can see the changes in the red cells under the microscope, so if you look at the blood of somebody with sickle cell disease, you see all of these cells that are sort of crescent moon shaped and then as people take their hydroxyurea and you look at the red cells under the microscope, the cells are bigger and plumper, and juicer and healthier. I tell some patients it’s like going from a raisin to a grape. They just plump up and they’re healthier and stronger and it’s actually visible that you can see, which is absolutely amazing.
Host: Wow, that is absolutely fascinating. So as children are growing, what types of care, comprehensive care do they need? What type of providers are involved, Dr. Sobota, as a child grows?
Dr. Sobota: So that’s a great question. Obviously pediatricians are going to be involved in the care of any child because children with sickle cell disease just like any kid has other medical needs and a pediatric office is often the family’s first line but pediatric hematologist, or blood doctors like I am are an integral part of caring for these because their sickle cell disease affects everything. So if you think about it, the blood goes through the entire body. The blood goes into every organ in our body and therefore sickle cell disease effects every organ in the body, and so one of the things that we do as pediatric hematologist is we do a lot of preventative care. We talk about ways to prevent complications. We do a lot of screenings so we can detect complications as early as possible. Sickle cell disease is still fairly rare, so an average pediatrician may only have one patient in their practice with sickle cell disease. We have hundreds here at Boston Medical Center so we do this every day, and so we definitely recommend that every child with sickle cell disease see a hematologist and ideally at a comprehensive center where we have other specialists. So for example, plenty of children with sickle cell disease also have asthma, and as you know asthma impacts the breathing and how much oxygen the lungs bring in and you can imagine if you have problems with your oxygen and problems with your red cells that deliver the oxygen, that can cause even more complications. Just as one example, we partner very closely with our pulmonologist, our lung doctors here at Boston Medical Center, to make sure that we’re treating both asthma and sickle cell disease to have the best outcome for the patient. As the kids get older, we also deal with a lot of things in our sickle cell clinic that aren’t necessarily at first glance, directly medically related. So for example, some of the things that can prompt those red cells to turn into the sickle shape and thus cause pain or other complications is dehydration, exposure to cold and when you think about it as kids get to be school aged, they’re out waiting for the bus, they may not have access to water at school, we provide families with paperwork for example for a 504 plan to take to their school so the kids can get the accommodations that they require to stay healthy at school, having a water bottle at their desk, having door to door transportation, perhaps being able to wear a jacket in school if its cold. So some of those things that may not at first glance seem like a big deal can make an enormous difference in the quality of life of a child with sickle cell disease, and because we do this so often, we can advise families on how to advocate for their kid because we want them to lead normal, healthy carefree lives as much as possible.
Host: So now a child is transitioning from that pediatrician and their well visits and all of these different pediatric specialists into an adult and so what’s involved in that transition of care and how does that happen?
Dr. Sobota: So that’s an enormous topic and I think of it as two separate prongs. So one is the actual transfer. So at some point, I’m a pediatric hematologist and I’m very, very good at that and I don’t treat adults and I shouldn’t be treating adults so at some point the patient needs to transfer their care to a specialist who has the appropriate knowledge of adults. One of the challenges for our patients with sickle cell disease is there are not a lot of adult hematologists with an interest or an expertise in sickle cell disease. We are very fortunate here at Boston Medical Center to have an excellent adult program with people who love to take care of these patients, but around the country that’s not always the case. So finding the right doctor, somebody who has that expertise, who knows what to look for as patients get older, who knows the screening that patients need or the treatment they need, finding that provider and making sure that their records get moved over is really important. But I think perhaps the biggest part of transition is that whole process, right? So we’re not only transitioning somebody to adult care, we’re really transitioning a child, who for their entire life has had care really managed by their family and their doctors to an adult who needs to be more independent. So I sometimes tell my patients, it’s like going from nursey school to college. You don’t expect in college to have a nap and a snack every day, you have to get yourself to class, nobody ties your shoes for you and that’s the way it should be, and that happens in life as people make transitions from one level of school to the next. Maybe being old enough to be home alone for a little while, and in medical care it’s the same thing. We need to gradually teach our adolescent and young adult patients how to manage their own health, how to advocate for themselves for example. So instead of their parent going into school to talk about what accommodations they need, maybe they need to go to the office at their college and talk about accommodations or maybe they’re getting their first job and want some guidance in how do they talk to their boss about how to stay healthy at work. Maybe their mom has always reminded them take their daily hydroxyurea. Now that they are a teenager they want to do it themselves but they don’t really have those patterns yet. We all now that teenagers don’t always make the best long term decisions so one of our jobs in pediatrics is to really help those young adults grow into mature, responsible adults who can manage their health on their own. That’s one of the reasons we have a transition clinic here at Boston Medical Center specifically for those young adults where we try to move from some of the hand holding we do in pediatrics to allowing them to become more independent but still with that safety net under them, so as they stumble occasionally as they’re learning these new skills, we’re there to brush them off and remind them what they should do and not let them completely fall through the cracks.
Host: What an amazing way to look at it and the importance of the role of the pedestrian and the pediatric specialist in that process of transition of care and the way you’ve described it Dr. Sobota is just absolutely perfect. So wrap it up for us, what you would like the listeners to take away from this segment and to let the listeners know what else is important about sickle cell disease and what you want them to know.
Dr. Sobota: This is a little bit of a step back from the medical information but there’s still a lot of misinformation and unfortunately a lot of stigma in the community about sickle cell disease so I think raising awareness is incredibly important. I mentioned at the beginning it’s an inherited disorder, which means people are born with it and yet I still hear patients say, even if they go to a hospital that doesn’t take care of a lot of patients, they’ll say oh how long have you had sickle cell disease? There’s also a lot of misconceptions out there about what it means to have sickle cell anemia and so I think the first thing for any of your listeners, this is a disease that people are born with just like so many others. It’s not something that anybody can catch and it’s nothing that anybody should be ashamed of. Having said that, sickle cell disease can be a terrible and debilitating illness and it’s really important for children and adults to have comprehensive care, but not only in a medical setting, at home, at work, at school, out in the community. Not all disabilities are visible and so it may be that somebody with sickle cell disease is having a lot of pain and that’s why they’re having trouble getting to the grocery store or perhaps the child has had a stroke and that’s why they’re not doing as well at school, and so just keeping in mind that people can have sometimes those silent disabilities and dealing with their chronic disease on a day to day basis can be exhausting and doing everything we can to support those people.
Host: Wonderful information, Dr. Sobota. Thank you so much for joining us today and for sharing your expertise and wonderful ways that the pediatric specialists are helping to transition these kids into adults with sickle cell disease. Thank you again for being with us. This is Boston Med Talks with Boston Medical Center. For more information you can go to bmc.org, that’s bmc.org. This is Melanie Cole, thanks so much for listening.