Positive news for those with Sickle Cell Anemia

Sickle cell anemia, also known as sickle cell disease, affects some 100,000 Americans and is predominately diagnosed among African Americans. According to the Centers for Disease Control and Prevention, one out of every 365 African Americans born is diagnosed with sickle cell disease, compared to one out of every 16,3000 Hispanic American births. Treatment for sickle cell disease has been limited, but recently there’s been positive news reported on new therapies that are showing encouraging results and a potential cure.

High risk of having sickle cell disease if parents carry the sickle cell gene

Sickle cell disease is an inherited blood disorder that impacts red blood cells. Red blood cells contain a protein called hemoglobin that is responsible for carrying oxygen from the lungs to all parts of the body. Typically, red blood cells are round and smooth and easy to flow about the body, but for those with sickle cell disease, their red blood cells are shaped like a crescent or moon-shaped sickle. This deformed shape makes it extremely difficult for the red blood cells to travel in the body as they often clump together, blocking the flow through blood vessels. The result can cause extreme pain and severe damage to all organs as they are not getting the oxygen they need to thrive.

As mentioned, sickle cell disease is inherited, which means this disease is passed down when both parents carry the sickle cell gene. In that case, there is a one in four chance that their child will have sickle cell disease. There are also instances when only one parent has the gene, and in that case, their child has a chance of being a carrier but not have the disease.

Sickle cell disease is often diagnosed by blood tests after a child shows symptoms, which includes:

• Anemia, or a lack of healthy red blood cells
• Jaundice, or the yellowing of the skin, eyes, and mouth
• Severe pain throughout the body
• Severe chest pain due to a lack of oxygen flow
• Enlarged spleen
• Stroke

If you have a family history of sickle cell, alert your doctor as there is a simple blood test that can determine if you carry the trait so you can better understand the disease and how it can affect you and any offspring you may have.

Years of research is now showing positive results for those with sickle cell disease

Over the years, treatment for sickle cell disease has been limited to addressing the pain associated with the disease and preventative measures to reduce organ damage, especially as someone with sickle cell disease ages. Some patients are cured by undergoing a bone marrow transplant, but that option is limited as bone marrow must come from a healthy donor whose typing is compatible with the person needing the transplant.

Recently, though, there’s been positive news when it comes to a possible cure. Two studies involving gene therapy that alter bone marrow cells to promote the production of fetal hemoglobin are showing great promise in combating this disease. Fetal hemoglobin is what allows a greater flow of oxygen in a pregnant woman to a developing fetus. Researchers note that fetal hemoglobin in an adult with sickle cell disease can offset the deformed red blood cells and eliminate the disease or lessen its impact. Research and clinical trials continue on this therapy to successfully find a cure for the thousands of people who suffer from sickle cell disease.

Healthy habits to help control sickle cell disease

There are steps people with sickle cell disease can take to control symptoms and stay as healthy as possible, including:

• Staying hydrated by drinking at least eight glasses of water a day; if exercising or in hot weather, drink more to stay hydrated. Limit your alcohol intake as that can cause dehydration.
• Getting a good night’s sleep
• Maintaining healthy eating habits that include fruits, vegetables, protein, and whole grains
• Take all prescribed medications as directed
• Make sure you are up to date on all vaccines, including the annual flu shot. It’s also important to note that those with sickle cell disease are at increased risk of serious complications or death from COVID-19. Talk to your healthcare provider about the COVID-19 vaccine to understand its importance and how you can protect yourself from the virus.

Regular checkups with a primary care provider can help prevent serious problems and keep people with sickle cell disease on track. Learn more about Primary Care at University Medical Center at umnco.org/primarycare.