Sickle cell disease: A global misconception

Throughout history, sickle cell disease (SCD) has been believed to affect mainly people of African descent. However, scientific research and clinical data have proven that this claim is incredibly inaccurate. 

In an interview with The Varsity, Dr. Isaac Odame, director of the Global Sickle Cell Disease Network at the Centre for Global Child Health at the Hospital for Sick Children (SickKids), clarified some key misconceptions about the disease and its origins. As the head of the hematology section of the division of hematology/oncology at SickKids, a professor in the department of pediatrics, and the director of the hematology division at the University of Toronto’s Temerty faculty of medicine, Odame claims that much can be done to improve the global health-care system with regards to this disease.

What is sickle cell disease? 

SCD refers to deformed, sickle-shaped red-blood cells that arise due to a mutation in the hemoglobin gene. Since the disease follows a homozygous autosomal recessive inheritance pattern, patients must inherit two copies of the mutated gene to exhibit the disease; patients who only receive one copy still exhibit regular red blood cells. The mutation converts a glutamine amino acid in hemoglobin to a valine amino acid. This ultimately leads to issues in protein structure, causing a “sickle” or crescent-shaped red blood cell.  

SCD can manifest itself as anemia or fatigue due to lack of oxygen retained in red blood cells, along with extreme or chronic pain, swelling in the hands and feet, higher susceptibility to infections, delays in growth, and problems with eyesight. 

The majority of cases have no cure, but some treatments can alleviate the severity of the symptoms.

Odame debunked the misconception that SCD is only prevalent among people of African descent and highlighted SCD’s global impact. His work at SickKids for SCD demonstrates that the disease stretches around the globe and targets a variety of ethnicities, which is consolidated by data at SickKids for SCD.

Odame discussed how malaria is a condition that is shared amongst all of these places. He states that the sickle cell mutation evolved to protect individuals in places where malaria is widespread. He explained that the disease is not related to race but to the “endemicity” of malaria. This means that it is common in places where malaria is still prevalent.  

Disparities in the health-care system 

Odame pointed out that there was a lack of knowledge surrounding many diseases that are more common among immigrants and racial minorities in Canada. Due to a lack of widespread awareness among health-care providers, rare blood diseases, such as sickle cell anemia, are not widely recognized. Consequently, only a handful of specialized clinicians and researchers possess expertise on and understanding of the disease, resulting in a significant disparity in care. He indicated that there are even cases when a patient has more knowledge regarding the disease than the health-care professional. This seems unjust and unsafe. 

Odame shared two ways that he feels this situation could be rectified. 

First, he commented on how to address systemic racism and the barrier to self-advocating that many refugees, racial minorities, and immigrants face. He explained that there are many prejudices faced when immigrants attempt to receive health-care in Canada. It is clear that there should be more space for patients to advocate for themselves, where their concerns are taken into consideration and treated with urgency. 

The second way to rectify these disparities is to spread knowledge regarding these diseases within the health-care education programs. He made it clear that these diseases should not be overlooked in training, as they are common amongst people who are new to the country. 

A focus on understanding 

Odame shared that while these disorders are rare in Canada, they are common in “parts of the world that lack the resources to be able to diagnose and treat the disease.” He explained that there needs to be increased collaboration between high-income nations such as Canada and places where the disease is common in order to “accelerate the pace of advancing care, doing the needed research within the context of these low income countries and providing solutions that work in low resource settings.” 

He explained that while there are techniques that are effective in Canada and other high-income countries, they are too costly and technologically advanced for the countries where SCD is most common. He stressed the importance of developing treatments that could apply to “lower resource settings.” That being said, currently, a lot of research is being done to develop cheaper and simpler diagnosis techniques, and there is even ongoing research and investment into curative treatment for SCD.

Throughout history, sickle cell disease (SCD) has been believed to affect mainly people of African descent. However, scientific research and clinical data have proven that this claim is incredibly inaccurate. 

In an interview with The Varsity, Dr. Isaac Odame, director of the Global Sickle Cell Disease Network at the Centre for Global Child Health at the Hospital for Sick Children (SickKids), clarified some key misconceptions about the disease and its origins. As the head of the hematology section of the division of hematology/oncology at SickKids, a professor in the department of pediatrics, and the director of the hematology division at the University of Toronto’s Temerty faculty of medicine, Odame claims that much can be done to improve the global health-care system with regards to this disease.

What is sickle cell disease? 

SCD refers to deformed, sickle-shaped red-blood cells that arise due to a mutation in the hemoglobin gene. Since the disease follows a homozygous autosomal recessive inheritance pattern, patients must inherit two copies of the mutated gene to exhibit the disease; patients who only receive one copy still exhibit regular red blood cells. The mutation converts a glutamine amino acid in hemoglobin to a valine amino acid. This ultimately leads to issues in protein structure, causing a “sickle” or crescent-shaped red blood cell.  

SCD can manifest itself as anemia or fatigue due to lack of oxygen retained in red blood cells, along with extreme or chronic pain, swelling in the hands and feet, higher susceptibility to infections, delays in growth, and problems with eyesight. 

The majority of cases have no cure, but some treatments can alleviate the severity of the symptoms.

Odame debunked the misconception that SCD is only prevalent among people of African descent and highlighted SCD’s global impact. His work at SickKids for SCD demonstrates that the disease stretches around the globe and targets a variety of ethnicities, which is consolidated by data at SickKids for SCD.

Odame discussed how malaria is a condition that is shared amongst all of these places. He states that the sickle cell mutation evolved to protect individuals in places where malaria is widespread. He explained that the disease is not related to race but to the “endemicity” of malaria. This means that it is common in places where malaria is still prevalent.  

Disparities in the health-care system 

Odame pointed out that there was a lack of knowledge surrounding many diseases that are more common among immigrants and racial minorities in Canada. Due to a lack of widespread awareness among health-care providers, rare blood diseases, such as sickle cell anemia, are not widely recognized. Consequently, only a handful of specialized clinicians and researchers possess expertise on and understanding of the disease, resulting in a significant disparity in care. He indicated that there are even cases when a patient has more knowledge regarding the disease than the health-care professional. This seems unjust and unsafe. 

Odame shared two ways that he feels this situation could be rectified. 

First, he commented on how to address systemic racism and the barrier to self-advocating that many refugees, racial minorities, and immigrants face. He explained that there are many prejudices faced when immigrants attempt to receive health-care in Canada. It is clear that there should be more space for patients to advocate for themselves, where their concerns are taken into consideration and treated with urgency. 

The second way to rectify these disparities is to spread knowledge regarding these diseases within the health-care education programs. He made it clear that these diseases should not be overlooked in training, as they are common amongst people who are new to the country. 

A focus on understanding 

Odame shared that while these disorders are rare in Canada, they are common in “parts of the world that lack the resources to be able to diagnose and treat the disease.” He explained that there needs to be increased collaboration between high-income nations such as Canada and places where the disease is common in order to “accelerate the pace of advancing care, doing the needed research within the context of these low income countries and providing solutions that work in low resource settings.” 

He explained that while there are techniques that are effective in Canada and other high-income countries, they are too costly and technologically advanced for the countries where SCD is most common. He stressed the importance of developing treatments that could apply to “lower resource settings.” That being said, currently, a lot of research is being done to develop cheaper and simpler diagnosis techniques, and there is even ongoing research and investment into curative treatment for SCD.