Research has shown that sickle cell disease is the most common life-shortening genetic disease in the United States.
Typically diagnosed in early childhood, sickle cell disease (SCD) occurs when a protein found in hemoglobin attaches to oxygen, causing what should be a normal-round red blood cell to collapse and take the form of a sickle. The“C”-shaped cell makes it difficult to carry adequate oxygen to the body, resulting in health problems such as frequent infections, episodes of pain, vision complications and stroke. Complications of SCD include anemia, acute chest syndrome, damage to internal organs, necrosis in bones and vascular system and skin ulcers. The severity of symptoms can vary from person to person.
Sheila Marchbanks, MBA, facilitator of the Sickle Cell Disease Support Group at Loma Linda University Health and self-proclaimed “Sickle Cell Warrior” offers nine facts to know about SCD.
- A global disease that affects many races. This hematologic disorder present at birth affects those with ancestry from Africa, Southern Europe, Middle East, India, Caribbean, Mexico, and Central and South America.
- An inherited, non-contagious, lifelong condition. As many as 140,000 people in the U.S. are living with sickle cell disease, according to the Centers for Disease Control. Sickle cell is not contagious, you can only inherit it if both parents pass it on to you. It’s not something you can catch like a cold, Marchbanks says.
- There are different types of SCD. When Hemoglobin S (Hb S) is inherited by one parent and another abnormal hemoglobin is inherited from the other parent, the result is a child with SCD. The umbrella term for the six genotypes is sickle cell disease and includes the following in descending order of frequency:
- Hb SS-Sickle Cell Anemia, most common type of SCD
- Hb SC-Sickle C, second most common type of SCD
- Hb SBT-Sickle Beta Thalassemias, third most common type of SCD
- Hb SD, Hb SE, and Hb SO-Arab, less common types of SCD
- Consequences of sickle-shaped cells. Without sufficient oxygen, crystal-like rods form inside the red blood cells. Clumping of these rigid sickled cells blocks blood vessels, slowing blood flow. Loss of blood flow reduces oxygen delivery, prompting body cells in any affected area of the body to die, causing severe pain.
- Pain episodes are the hallmark symptom. Individuals of all ages may experience both acute and chronic pain ranging from mild to severe over the course of a day, or over a lifetime.
- Known as the “invisible disease.” It’s nicknamed the "invisible disease" because the condition manifests internally, and its health complications may not be outwardly observable. Marchbanks says that because of the disease’s imperceptible nature, many people with SCD are often misunderstood, criticized, and denied appropriate medical care.
- Healthy choices can reduce symptoms. Making healthy life choices can help manage the negative effects of the disease, Marchbanks says. She encourages sufferers to remember the acronym “S - I - C - K - L - E:”
- S - Sleep, Rest, and Stress Less
- I - Infection Avoidance and Immunizations
- C - Climate Control, Not Too Hot and Not Too Cold
- K - Knowledge of Triggers, Medications, and SCD
- L - Liquids Intake, Drink Plenty of Water, and Stay Hydrated
- E - Eat Well, Exercise Moderately, and Enjoy Life!
- Approved FDA medications. There are two medications approved by the FDA to treat SCD. Hydroxyurea approved in 1998 and L-glutamine approved in 2017, are medications that offer a better quality of life to sickle cell patients by reducing the frequency of pain episodes and associated health complications.
- Bone marrow transplant is the only known potential cure. Although there is ongoing research in the field of gene therapy, the only known potential cure for SCD is stem cell transplant. The first successful procedure was completed in 1996. Since then it has typically only been effective for those patients 16 years and younger. Recently, adults have also been shown to benefit from transplant. Interested healthy donors may visit the National Marrow Donor Program “Be the Match” and join the SCD donor registry.
Marchbanks urges sickle cell patients, caregivers and supporters to attend a community support group. “Our program at Loma Linda University Health aims to educate, inspire and encourage those dealing with SCD,” Marchbanks says. “Become a sickle cell warrior and join us in fighting the disease.”
Are you or someone you care about suffering with sickle cell disease? Attend the Loma Linda University Health PossAbilities program SCD Adult and Family Support Group and Educational Series, which occurs the second Thursday of each month from 6:30 to 8:30 p.m., at the Professional Plaza, Building A, PossAbilities Office, 25455 Barton Ave., Suite 109A, Loma Linda, CA. To learn more call 909-558-6384 or visit SCD support group website.