Today is World Sickle Cell Day. We here at Valeda would like to take this chance to spread awareness around sickle cell disease. By increasing awareness, we can benefit the community and those who suffer. We all play a part and we thank you for taking the time to educate yourself today.
Sickle cell disease (SCD) is caused by a mutation on the hemoglobin gene. This gene contains the code for your red blood cells. When a patient has sickle cell disease, their red blood cells are shaped like crescents (or sickles) instead of a normal disc-like shape (pictured below). The sickled red blood cell causes many issues in the body because the shape causes the red blood cells to be rigid, sticky, and have a decreased capacity to carry oxygen throughout the body. The rigidity and stickiness lead to these cells clumping together within the blood vessels causing blockages. Blockages cause decreased blood flow and oxygenation; therefore, causing patients with sickle cell disease to experience long-term damage to their organs, increased risk of infection, and have pain crises. These pain crises are the leading reason for sickle cell disease patients to be hospitalized.
Now we will discuss sickle cell trait (SCT). SCT is the sickling mutation occurring on only one of your genes. Humans have two copies of every gene. One coming from your mother and the other from your father. If you have one sickling gene and one normal hemoglobin gene, then you do not present the symptoms of SCD. You must have two sickling genes to have sickle cell disease. A mother and father who each have SCT have a 25% chance of having a child with SCD. Approximately 1 in 13 African Americans carry the SCT. This is common and increasing screening for at risk patients can help determine who needs treatment and who has the capability of their offspring having SCD.
Since SCD is genetic in nature, we can look at ones genetic makeup and determine if they have the disease. This genetic difference is common in places where malaria is present. This includes sub-Saharan Africa, South and Central America, Saudi Arabia, India, and Mediterranean countries. It is thought that the genetic difference of SCD was the body’s adaptation to prevent contracting severe malaria. If you or someone you know has ancestors from one or more of these areas, there is a possibility of carrying the sickle cell trait (SCT). Getting screened is the best way to know if you are affected by this genetic difference. It just requires a simple blood test to determine the type of hemoglobin a patient has.
Once we have a diagnosis, we are able to treat patients so they can have an improved quality of life. The most common treatment is hydroxyurea. Hydroxyurea works by stimulating the body to create fetal hemoglobin (HbF). Fetal hemoglobin is the type of hemoglobin that infants make and use until five months of age. At that time, they switch to making normal hemoglobin A or the sickled hemoglobin S. By falling back on the fetal hemoglobin in SCD patients, we are able to increase the flow of oxygen throughout the body and decrease the number of blockages within the blood vessels. With hydroxyurea, an increase of fetal hemoglobin helps relieve patients of their symptoms and decrease their trips to the hospital.
There is a strong push to help patients with SCD get diagnosed and treated. Many groups (local and national) provide support to do so. This support includes screening at risk groups, connecting patients to therapy, and providing a support network for affected people. Two examples of these advocacy groups are the Sickle Cell Disease Association of America and the American Sickle Cell Anemia Association. They were created to advocate for those with SCD and to help empower those patients to increase their quality of life. We encourage those who are interested to take a look into these groups or others to see how we can help those in our community who are affected by sickle cell disease. These groups are looking for community involvement in their events, volunteer work, financial donations, or donations of materials needed for their operation.
More details can be found at their websites listed below:
Sickle Cell Disease Association of America: https://www.sicklecelldisease.org/
American Sickle Cell Anemia Association: http://www.ascaa.org/
With the support of these groups, loved ones, health care providers, and the right treatment, SCD can be better managed for our patients and can provide them the ability to live a happier, healthier life.