Sickle Cell Awareness

As some may be aware it is Sickle Cell Awareness month this September. Many may have heard about this disease but may not be sure about the complications and how it arises. Sickle cell is a non-communicable disease; it cannot be caught by being in direct contact with someone who has it.

The sickle cell trait occurs when an individual inherits one copy of the mutated gene that codes for HbS (haemoglobin S which is a dysfunctional protein) from one parent – and a copy of the gene that produces HbA, normal haemoglobin. When an individual has one copy of HbS and one copy of HbA, we say they are a sickle cell carrier, (genotype HbAHbS) which is not regarded as having the disease. The disease occurs when two individuals with a copy of the HbS gene have a child and pass down the gene. This child will have two dysfunctional protein genes (genotype HbSHbS) and therefore has sickle cell disease.

Effects of Sickle Cell Disease:
There are 3 different presentations of the sickle cell disease:
1) HbSS - Symptomatic sickle cell disease
2) HbS beta thalassemia – Inheritance of sickle cell disease from one parent and beta thalassemia from the other (symptoms tend to be more severe than other presentations)
3) HbSC, HbSD, HbSE, HbSO – Inheritance of sickle cell disease from one parent and mutation of the HBB gene, which codes for a subunit of haemoglobin, from another parent.

Sickle cell disease is harmful for several reasons. One main reason for this is that it deforms the shape of red blood cells (RBCs) within the body. For example, a normal and healthy RBC is platelet shaped and can move around the body in small vessels, carrying oxygen to all muscles. However, individuals with sickle cell have RBCs the shape of a farming sickle, which resembles a ‘C’. These sickled red blood cells are usually hard, die early and get stuck in small blood vessels which cause a shortage of oxygen in the body by blocking the flow of blood to important organs. As all organs in the body need oxygen and blood to function, if this is not sufficiently supplied then it poses a huge health risk to individuals such as chronic pain attacks known as crises, organ damage and in some cases, a stroke.

Treatments:
Treatments for sickle cell disease are determined on a case-by-case basis. Some examples of treatment for sickle cells include regular blood transfusions, high fluid intake, medications and IV treatment.

As of right now, there are currently only two permanent cures for sickle cell disease:

• bone marrow transplant

• stem cell transplant.

These procedures include taking healthy stem cells from a donor and implanting them into someone whose bone marrow is dysfunctional, causing the bone marrow to make healthy new stem cells and therefore suitable RBCs. For the procedure to work the bone marrow must be a really close match to avoid rejection and so the procedure itself is very risky and can sometimes lead to death.

Awareness:
It is a common misconception that only individuals of Black heritage can inherit sickle cell disease. Any individual of any heritage with two parents who carry the HbS gene can have the disease. Despite the misconception, sickle cell disease is most common in individuals with African or Caribbean decent. Statistics have shown that sickle cell disease affects about 100,000 people in the United States; more than 90% are non-Hispanic Black or African American, and an estimated 3%–9% are Hispanic or Latino.

Did you know that people with sickle cell trait are less likely to be infected with malaria? While the connection behind carrying the HbS gene and protection from malaria is still unclear to scientists, studies have shown that people with the trait have blood cells that malaria germs find difficult to grow in. However, this is not to be confused with the connection between sickle cell disease and malaria infection as those homozygous for HbS have an increased risk of malarial death.

It is important to bring light to these statistics and the impact of sickle cell disease, so individuals can get screened and tested for the sickle cell trait to make informed decisions on the risks of their children developing the disease.

References:
NHS (2019). Sickle Cell Disease. [online] NHS. Available at: https://www.nhs.uk/conditions/sickle-cell-disease/.
CDC (2024). Data and Statistics on Sickle Cell Disease. [online] Sickle Cell Disease (SCD). Available at: https://www.cdc.gov/sickle-cell/data/index.html.
What You Should Know About Sickle Cell Disease What Is Sickle Cell Disease? (n.d.). Available at: https://www.cdc.gov/sickle-cell/media/fact-sheets/basic-information/what-you-should-know-about-scd.pdf.
Verywell Health. (n.d.). What to Know About Sickle Cell Anemia. [online] Available at: https://www.verywellhealth.com/sickle-cell-anemia-7507053.

Blog written by: Paula U

Moderated by: Kirah R