National Sickle Cell Awareness Month, observed during September, is a time to focus on and raise awareness about a genetic blood disorder called sickle cell disease.
According to the National Heart, Lung and Blood Institute, sickle cell disease is the most common inherited blood disorder in the United States. It affects approximately 100,000 Americans and about 8 million people worldwide.
Seethal A. Jacob, MD, associate professor of pediatrics at the Indiana University School of Medicine, further explains exactly what sickle cell disease is, how to treat it and what advice she has for researchers wanting to go into the field.
Question: What is sickle cell disease and how do people get it?
Seethal A. Jacob: A child is born with sickle cell disease every minute somewhere in the world, making it the most common inherited blood disorder. It is caused by one small change in hemoglobin, a protein inside of our red blood cells that helps carry oxygen. In sickled red blood cells, when hemoglobin lets go of the oxygen the red blood cells can become a banana or half-moon shape like a sickle. One of the most common complications is severe pain. It can happen at any time when these sickled cells get trapped in our small blood vessels and stick to other cells, creating a wall that blood can’t get through. This can lead to tissues and organs not getting the blood or oxygen they need and in turn causing intense pain. But because it affects the red blood cells, sickle cell disease impacts every part of the body from our head down to our toes, leading to complications like severe anemia, stroke, bone necrosis or kidney disease.
Q: What is the treatment plan, and what are some treatment options?
Jacob: The most important part of the treatment plan for sickle cell disease is ongoing preventative care with an expert team at a sickle cell center. The sooner treatment is started, the sooner complications are identified and the more likely we are to prevent significant complications. With that said, there are very limited treatment options for sickle cell disease. There are only three FDA-approved treatments on the market for sickle cell disease — only one of which is approved in infants/toddlers. Hematopoietic stem cell transplant is a potential curative option if individuals have a matched stem cell donor. Gene therapy is a potential transformative treatment option for those with severe disease, but these come with their own risks that require discussion with experts at a sickle cell treatment center.
Q: Does the disease affect certain races/ethnicities of people more than most? What can people do to get ahead of it?
Jacob: There are higher rates of the disease in individuals of African, Indian and Caribbean descent, but with global migration, it is truly a global disease. Knowing whether you have sickle cell trait (i.e. a carrier of one sickle mutation) does allow you to know the potential risk of having a child with disease, particularly if your partner also has this trait or disease. I recommend anyone who is planning to have children or who is currently pregnant to ask their doctor to test them and their partner for sickle cell or the thalassemia trait so that they can understand the potential risk.
Q: What role has telemedicine played in how doctors meet with patients affected by this disease?
Jacob: Every person with sickle cell disease deserves to receive care from a sickle cell expert who is connected to a sickle cell center. However, there are too few sickle cell experts and even fewer treatment centers, making access to this type of care difficult for individuals living with the disease. Telemedicine has allowed us to extend the reach of sickle cell experts to where patients are to reduce some of the burdens associated with accessing care. While there is still much for us to learn about telemedicine and adapting it to the needs of individuals with sickle cell, our own work in this space has shown we are able to increase visit attendance, increase treatment initiation and meet care guidelines for children with sickle cell disease using telemedicine while reducing burden.
Q: Do you have any advice for researchers going into the field or anyone who wants to study sickle cell disease?
Jacob: Please do! There are too few of us, and there are so many questions left unanswered in sickle cell disease. We need more people who care about and are invested in this area to drive much-needed innovation for sickle cell disease. It is essential to closing the gap in care that individuals with sickle cell disease have experienced for too long. I would also say, find a mentor that is passionate about sickle cell. Even if they aren’t at your institution, sickle cell researchers and clinicians are a special group of people who are truly passionate about who we care for and what we do, and we are always willing to support and encourage others to join us in this space.
