Perspectives From an Expert on Sickle Cell Disease

Transcript:

HELEN: Welcome to Talking about Blood. I’m Helen Osborne, host of this podcast series and member of the Advisory Board for The Blood Project. I also produce and host my own podcast series called Health Literacy Out Loud. Today I am speaking with Dr. Isaac Odame, who is hematology section head of the Division of Hematology Oncology at the Sick Kids Centre in Toronto, Canada. The focus of his clinical care and research are patients with sickle cell disease and thalassemia. Among his many accomplishments, Dr. Odame is Medical Director of the Global Sickle Cell Disease Network. This network builds on enduring collaborations between clinicians and scientists worldwide to further research and advance patient care, particularly in parts of the world with the heaviest disease burden. Welcome to Talking about Blood, Isaac.

ISAAC: Thank you very much Helen.

HELEN: Let’s start at the very beginning. Can you explain for all of us, just overall, what is sickle cell disease?

ISAAC: Sickle cell disease is an inherited disorder of blood. The protein in blood that makes our blood look red, hemoglobin. The abnormality is inherited… the patient has a disorder in which hemoglobin rather than staying fluid throughout the passage of blood in the body, sometimes forms a gel. This gel-like hemoglobin distorts the normal donut shape of the red cell and is sickle-like. It looks like a banana shape, or moon shape. That is why it is called sickle cell. It looks like a sickle. This kind of distortion not only makes it rigid and makes it break easily, it makes it sticky to the smooth lining of blood vessels, which we call the endothelium.

HELEN: Ok, so let me put this into my terms being a non-physician. It gets this odd shape, this distortion of that cell and it makes it more sticky. It sticks to the vessel that it passes through?

ISAAC: Yes, and it breaks down more easily so the cell doesn’t live long enough. It breaks up much faster than it would normally do. So over time a combination of all this means the patient will have anemia because the blood is breaking down much faster. Also the stickiness of the cell to the lining of the blood vessels means that it is more likely to clog small blood vessels. When it does that, it starves the tissues from oxygen and causes inflammation which leads to excruciating pain which is considered to be a hallmark of sickle cell anemia, some called vaso-occlusive pain episodes, or some call it pain crisis.

HELEN: Pain crisis, and this is life long? It starts in children?

ISAAC: It starts in children. When we are born, in the womb, we have a different kind of blood, which slowly switches to other blood soon after we are born. So the sickle doesn’t manifest until a few months after birth. But from that time on, this process happens throughout the life of the patient.

HELEN: And it’s always so painful.

ISAAC: It comes in spells, so they don’t have pain all the time. From time to time, they get spells of extricating pain which is the number one reason they seek care in hospitals.

HELEN: Is this, well I’m speaking from the US. You’re in Canada. How prevalent is sickle cell disease in either of our countries or other places around the world?

ISAAC: So, it turns out this variant of hemoglobin or this mutation, arose thousands of years ago and over time spread in areas where malaria is endemic because it turns out that if you have just one copy of this gene in your system, you are more resistant against malaria infection. As a result, over time people who have just one copy – we call them carriers (you need two copies to have the disease) – if you have just one copy you actually have a survival advantage. You can imagine that over time a large number of surviving adults will have the trait, we call it a trait, the carrier, and therefore will be at risk of having children who have a double copy of the gene. So it happens to be dominant in areas of the world where malaria is endemic. Which is why people of African descent, people of Indian descent, people of Mediterranean descent, Middle Eastern descent, happen to be the people predominantly affected. And in modern times, in areas of the world where people from these regions have traveled, so for example in the United States the slave trade was a reason why the gene was transferred to the North Americans. If you look at Europe and other areas of the world: travel, economic travel, migrations, will account for modern day spread of the gene. So currently, sickle cell is found all around the world because of migration.

HELEN: Wow, that brings in all kinds of sociological issues too when you talked about coming to the US because of the slave trade. The other issue you talked about is this excruciating pain and you said that people have to go to the hospital. But if it is predominantly in countries, in Africa, in India, and other parts of the world, is health care as prevalent and as accessible as it is in your country and mine now?

ISAAC: So that’s the challenge with sickle cell anemia. Where the disease is most prevalent, where the burden is heaviest, happens to be regions in the world where resources for diagnosis and treatment are limited, and that is the reason why we formed the Global Sickle Cell Disease Network. To highlight these challenges, to accelerate the pace of partnerships with counterparts who live in those parts of the world so that we can improve research and advance clinical care for patients in those regions. So as for North America, maybe in the United States there are 100,000 patients. In Canada, there may be up to about 6-7,000 patients. In a country like Nigeria, every year 100,000 are born every year with the disease. So the whole compliment of the total number of sickle cell patients living in the United States are born in a year in Nigeria.

HELEN: Oh, I’m coming out, almost at loss for words. Can you tell us about the treatment for it? So a child might go into the hospital and maybe you’re treating his or her pain. What are the kinds of treatments? What progress is happening?

ISAAC: So it turns out that the thing that threatens the life of children born with this disease is not so much the pain. The pain is excruciating and very discomforting. But one aspect of sickle cell anemia also is the susceptibility to infection. These children lose the function of the spleen, which is an organ in the belly, on the left side of the belly. It filters the blood and participates in fighting certain infections and number one is a pneumonia bug called pneumococcus. So it turns out that sickle cell children are very susceptible to getting disseminated infection from this bug, and that is the reason why we do neonatal screening in the richer parts of the world because by detecting them early, one can give them antibiotics, penicillin, to prevent this infection.

HELEN: Ok, and every flare up do you have to be treating the infection?

ISAAC: So, you try to prevent infection, and when they are sick with fever they have to be seen in the hospital to make sure we don’t have an infection in the blood, which would require treatment. That is a major threat to your life. And then the pain that occurs is something that requires treatment in the emergency department, because it has to be treated quickly. And that is where sickle cell patients face challenges, whether they are young or old, when they go to emergency department because sometimes their sometimes their pain is not as well recognized and their pain is not treated promptly enough. And this is an area of ___ for sickle cell patients around the world. That somehow their pain is not believed, and they are not given treatment promptly enough. And in fact there is clear evidence that sometimes they feel they are being discriminated against in being able to access care.

HELEN: Because pain is so subjective too, right?

ISAAC: Exactly, exactly. Pain is a subjective thing. It’s not something that you have an accurate measure of. It’s not something that you use a tool to measure. So you got to believe the patient when they say they have pain. Otherwise there is distrust, and there is a kind of adversarial relationship between the patient and the provider. And these are issues we are working hard to try to improve.

HELEN: I’m hearing from you so many issues beyond the physiologic, beyond the medical, just all the sociologic and the communication ones, and the subjectivity, and the value judgments, and all of that. And some of the areas of the world where healthcare is least accessible. Can you tell us, I know you’re very very active in this network. Is there some good news coming out of that? That sounds like an almost intractable problem.

ISAAC: Yes, some good news is coming out of it because really, what ___ we need is strong advocacy, and advocacy from the public. Advocacy from providers that tries to make an impression on governments to have the will to provide the healthcare resources to treat patients. So we have made inroads into that. The other area where we are making some inroads is establishing some newborn screening programs, where early diagnosis of this disease is done. We are struggling a lot because the systems cannot deal with the high numbers of beds, and they don’t have a universal approach where every child born is tested. Thirdly, we know that these patients need to promptly, having access to emergency care. It may not be available, particularity in rural settings, in low income countries. These are challenges in accessing care. So we are shifting emphasis in being able to implement preventive therapy, what we call disease modifying therapy. An example would be a medication called hydroxyurea, which actually helps to improve sickle cell and reduce the number of pain episodes and some of the complications that leads to hospitalization in these patients. So we believe that lower income countries actually need to spread the use of these therapies, so one can be preventive rather than wait for these crises to occur when access to care is limited and not timely enough to address the needs of patients.

HELEN: As I said, you’re bringing up so many elements. Isaac I think you’re also on the Advisory Board for The Blood Project as am I. You know that the website is a great resource and it has people of all perspectives. We have seasoned hematologists, well into their careers who have been doing this a long time. We have people who want to go into the healthcare or medical fields, might be in their residency, may or may not be hematologists. And we have people who are just curious about all things about blood. I’m curious from your perspective, what can all of us do about this worldwide problem, especially in those low income countries, about sickle cell disease? Maybe we’ll start from the top. What can practicing physicians do about this? Someone whose been working at this a while. What would be on your wish list? What would you like them to know or do?

ISAAC: Well, I think for practicing hematologists in North America and Europe, in the richer parts of the world, I think a new day has dawned in that there have been recent advances in our understanding of this disease which is creating opportunities for new treatments and even creative therapies. And so the size and the understating of how our blood works and how sickle cell causes symptoms is revealing some insights into how one might better treat this disease, or even cure it. And in this genomic era, areas like bone marrow transplant and gene therapy, genome editing, are showing a high degree of promise for providing avenues for cure. But even before then, before cure can be accessible, we think that we have a better handle of being able to treat patients in a preventive way to minimize the complications and to improve quality of life. So I would say to young and upcoming hematologists, that the field is ripe for young doctors and other professionals who really want to use the best  of science to provide better care for these patients and to provide a fulfilling career to people who show that they are making a different to patients’ lives. So sickle cell disease is not what it used to be, maybe 20 years ago. There’s a lot of advancement, there are a lot of new things on the horizon, and I think the field is becoming exciting, and I’m hoping that many who are listening or who will be listening to this podcast will find this a hook to think about careers in this area.

HELEN: You certainly are an inspiration for that. Is there a website where people can be learning more about your Global Sickle Cell Disease Network?

ISAAC: Yes, if they go to http://www.globalsicklecelldisease.com, we have a website that provides some information about what the mission of the network is. News and stories about what is happening in other parts of the world, particularly in lower income countries, and what events are taking place to try to bring clinicians and scientists together. For example, this June in Paris, we are having the Fall Global Congress of Sickle Cell Disease that will be discussing the best science and not only that, how it even effects low resource settings where the disease burden is heaviest.

HELEN: What an opportunity for people I know other physicians and other health care people I know who have such global perspectives and I think it that might really resonate with them to know about this wonderful work. So what’s your advice or tips for people like me who are simply curious about this?

ISAAC: Well, I think what I want people to know that sickle cell disease was one of first diseases in humans for which the genetic cause was known.

HELEN: Oh, for which a genetic cause is known?

ISAAC: Yes, well before we even understood modern molecular biology, we knew the protein abnormality in sickle cell disease. It has taken us so long to get to where we are primarily because this disease is more prevalent in parts of the world where the resources for research and clinical advancement are limited. But that is beginning to change now, and the way for us to really make advancements quickly enough to save lives, is to foster partnerships between rich countries and poor countries, between agencies like the World Health Organization and other international bodies that fund global health… to accelerate the pace of initiating programs particularly in sub-Saharan Africa and India, where the burden is so heavy. So I am hoping that people like yourself will become aware of it and with the awareness will be engaged in any effort that requires support for problems in low income countries.

HELEN: Thank you Isaac, I am your supporter, cheering on this work. And when you said you want us to learn more, you’ve shared so much in this podcast that I didn’t know before about the origin of the disease, the history of the disease, how if effects people. And your hope and your experience about the science and interventions that are coming ahead. Thank you so much for all you do on behalf of helping sick kids with this disease get better, understanding the science, and most of all for now, for sharing it with us on Talking about Blood. Thank you Isaac.

ISAAC: It’s a pleasure Helen, and thank you for your time.

HELEN: As we just heard from Dr. Isaac Odame, it’s important to understand many of the blood diseases that we have, including those like sickle cell disease, that disproportionally effects those in low income areas of the world. To learn more about The Blood Project and explore its many resources for professionals, trainees, and patients, go to https://www.thebloodproject.com. I invite you to also listen to my podcast series about health communication. It’s at https://www.healthliteracyoutloud.com. Please help spread the word about this podcast series and The Blood Project. Thank you for listening. Until next time, I’m Helen Osborne.