Sickle cell disease (SCD) is the most common single-gene disorder in the world. The Centers for Disease Control and Prevention (CDC) estimates that in the United States, SCD occurs among one out of every 365 Black or African-American births and one out of every 16,300 Hispanic-American births.
SCD is a disorder of hemoglobin. Hemoglobin is the protein in red blood cells that helps carry oxygen. As oxygen is released from the hemoglobin in the red blood cells, the hemoglobin changes shape into a deoxygenated, or sickled shape.
Once the cells become sickle shaped, there can be damage to the red blood cell, causing it to burst. This can lead to irritation of the blood vessel lining. Sickled cells can also cause activation of the white blood cells and platelets, which causes stickiness that can block the blood flow in the vessels, leading to the pain normally associated with SCD. Not only can the sickling of the red blood cells cause pain, but it can also cause acute problems and chronic organ damage.
People with SCD start to show signs and symptoms around five months of age. Infants do not usually show signs because fetal hemoglobin protects the cells from sickling.
People who only inherit one sickle cell gene from their parents have sickle cell trait (SCT). SCT carriers usually do not have symptoms of SCD, but they can pass the trait on to their children. According to the CDC, if only one parent has SCT, there is a 50% chance that the child will inherit SCT. If both parents have SCT, the child has a 25% chance of having SCD.
Living with Sickle Cell Disease
People with SCD can live a full, active life. While someone with SCD may not be able to control how it affects them entirely, some things can help with managing symptoms.
- The severity of pain associated with sickle cell disease can vary from person to person. Discussing symptoms with a physician, looking for pain triggers, pain medications and relaxation techniques can help relieve and manage pain.
- Take medication. Take prescribed medication as directed by a physician.
- Stay up to date with vaccinations to prevent serious infections. People with sickle cell disease are encouraged to get the annual flu shot, and the pneumococcal and meningococcal vaccines. Common illnesses can quickly become dangerous if living with sickle cell disease.
- Drink enough fluids. It is important to have proper hydration to prevent a sickle cell crisis. When exercising or in a humid environment, more water will need to be consumed.
- Eat healthy foods and get enough sleep. Sleep for at least eight hours a night and consume a diet of whole grains, protein, fruits and vegetables.
How To Help a Loved One
Supporting a loved one with SCD can make all the difference. Taking a person with SCD at their word is very important. If they say they are in pain, they are in pain. There is no clinical marker or test that can determine if a person is in pain or not, which makes it extremely important to believe them and treat them appropriately.
Many people with SCD often feel alone in their illness. In providing a support system, it is vital to be an active listener and acknowledge their pain is real. Clinical teams also play a role in providing support by helping to manage pain and provide additional resources.