September is National Sickle Cell Awareness Month. This blog post aims to give some insight into a genetic disease that many may not be very familiar with.

What is Sickle Cell Disease?

Sickle Cell Disease (SCD) is the most common inherited blood disease in the United States with approximately 100,000 people living with SCD. One in twelve African-Americans carries a sickle cell gene and about 3,000 children are born each year with SCD. The disease is characterized by an abnormal sickle or crescent shaped red blood cell (RBC). This shape makes it difficult for RBCs to flow through blood vessels. These abnormal RBCs also die sooner than they normally should which causes a constant shortage of RBCs.

Complications Caused by Sickle Cell Disease:

Complications and symptoms usually start to appear within the first year of life. These complications can worsen over time and are caused by the abnormal blood flow of RBCs. The most common complication is called “sickle cell pain crisis” and is a result from abnormal blood flow and oxygen delivery to organs and extremities. It is also the leading reason why people with SCD go to the emergency room. These pain crises can be induced by dehydration, extreme temperature, high altitudes, and intense exercise.

Other complications include:

• Anemia – Caused by low RBC count.
• Greater risk of infections – Important that people with SCD remain up to date on vaccination.
• Blood clots – The abnormal RBC shape can cause blood clots in the extremities and lungs.
• Vision loss – Caused by blocked blood vessels in the eye.

Sickle Cell Disease v. Sickle Cell Trait:

As mentioned above, SCD is inherited. For someone to have SCD, they must have gotten the sickle cell gene from both parents. However, if they only received one sickle cell gene it is called Sickle Cell Trait (SCT). This means for someone to have SCD, both of their parents must either have SCD or SCT. If both parents have SCT, there is a 50% chance their child will also have SCT and a 25% chance they will have SCD. People living with SCT do not have any of the symptoms or complications associated with SCD.

SCD and SCT can both be determined with a blood test and is usually done at birth. It is important to know whether a child has SCD or is a carrier for the sickle cell gene so doctors can help manage and prevent the many complications caused by the disease.

If you are interested in learning more or about raising awareness of SCD please visit: https://www.sicklecelldisease.org/get-involved/events/national-sickle-cell-awareness-month/

Resources:

• What is Sickle Cell Disease? https://www.cdc.gov/ncbddd/sicklecell/facts.html Accessed 08/28/2021
• Sickle Cell Awareness Month. https://www.nationwidechildrens.org/specialties/hematology/sickle-cell-awareness-month Accessed 08/28/2021