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SICKLE CELL AWARENESS

What is Sickle Cell Disease (SCD)?


Sickle cell disease (SCD) is an inherited disorder of the red blood cells. Healthy red blood cells are round and donut-shaped. They move through blood vessels throughout the body to carry oxygen, carbon dioxide, and nutrients. Red blood cells rely on a special protein called hemoglobin to transport oxygen.


In SCD, there is a genetic change that causes the hemoglobin, the main component of the red blood cells to stick together. Instead of a donut shape, the red blood cells have a crescent moon or “sickle” shape. The sickle-shaped red blood cells are unable to move easily. They pile up and block blood flow in the body. This can cause health issues, including pain, infections, strokes, and other complications.

sickle cells versus healthy cells

Image: Sickle cells (pink) versus healthy red blood cells (red)

Source: NHS


Who is at Risk?


SCD mostly affects Black individuals. In the U.S., more than 90% of those who have SCD are Black or African American individuals. People of Mediterranean or Southeast Asian backgrounds might also be more affected by SCD.


How Sickle Cell Disease Affects the Body


Sickle cells die faster than healthy red blood cells, which causes a shortage of red blood cells. When sickle cells travel through small blood vessels, they get stuck and clog the blood flow. When sickle cells block blood flow, it can cause pain or infection and other serious health problems such as:


  • Acute Chest Syndrome: A serious condition affecting the lungs that causes symptoms similar to pneumonia. It can be life-threatening and is the most common cause of death in people with SCD.

  • Stroke: Occurs when blood flow to the brain is blocked, which is a medical emergency.

  • Priapism: A painful, long-lasting erection that occurs in males with SCD when blood gets trapped in the penis. It requires immediate medical attention to prevent long-term damage.

  • Anemia: Anemia is a problem of not having enough healthy red blood cells or hemoglobin to carry oxygen to the body's tissues.


How Sickle Cell Disease Affects Pregnancy and the Developing Baby


  • During pregnancy, people with SCD might need to see a special doctor for high-risk pregnancies and visit the doctor more often

  • Some pregnant and breastfeeding people with SCD may need to change their treatment and get additional vaccinations

  • During pregnancy, pain may get worse and healing after birth could take longer

  • Health problems might be more likely to happen. The risk of blood clots, placenta abruption, or preeclampsia may be higher

  • Your baby may have higher risk of having developmental problems in the neural tube 



Signs and Symptoms of Sickle Cell Disease


SCD usually shows signs within the first year of life, around five months old. Common symptoms include:

  • Anemia: Leading to fatigue, paleness, yellowing of the skin and eyes, and shortness of breath

  • Painful Swelling: Often in the hands or feet

  • Frequent Infections: Due to damage to the spleen, an organ that helps fight infection

  • Delayed Growth and Puberty: Due to lack of healthy red blood cells


Diagnosis


  • People who have SCD are born with it. It is usually diagnosed through a simple blood test taken as part of routine newborn screening. SCD does not go away but early diagnosis can help manage symptoms, identify the type of SCD someone has, prevent complications, and improve quality of life. 

  • If you are thinking about having a child with your partner, talk to your doctor if a carrier screening is recommended for you and your partner.


Carrier screening


  • Carrier screening helps find out if someone carries a gene for certain inherited disorders and if they could pass it on to their children. It is usually done by testing a blood or saliva sample.

  • If you test positive, it is important for your partner to get tested, too. This can help you understand what it might mean for your future if you have a child together. 


Managing Sickle Cell Disease: 


The type of care someone needs depends on how bad their symptoms are and the kind of SCD they have. Treatment for SCD often includes medication to reduce pain and other symptoms and to prevent problems like stroke, lung issues, vision loss, or infections. For some, bone marrow transplant or gene therapy might be recommended.  Currently, more data are needed on how gene therapy impacts the patient and their recovery.


Things you can do to improve your quality of life:


  • Stay up-to-date on your recommended vaccinations to prevent harmful infections

  • Keep your doctor appointments, including your eye doctor visits to monitor vision problems

  • Live and eat as healthy as you can

  • Talk to your care team about living with your illness

  • If your symptoms and pain are getting worse, talk to your doctor about other types of pain management

  • Talk to people in your life about the ways they can support you

  • If you are pregnant or planning to become pregnant:


Resources: 



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