Sickle Cell Disorder: Why Should I Care?

Katherine Vaughan's picture
By Katherine Vaughan on June 14, 2022

Sickle cell anemia, also called sickle cell disorder (SCD), is the most common type of inherited blood disorder. More than 100,000 people live with SCD in the U.S., and 40% of them are children. About 2,000 U.S. newborns are diagnosed with SCD every year. 

What Is SCD?

Red blood cells carry oxygen throughout the body to the organs and tissues that need it.

illustration of healthy red blood cell compared to sickle-shaped red blood cell
The red blood cells of a person with sickle cell disorder are rigid and crescent shaped, which leads to blocked circulation, pain, swelling and organ damage.

Healthy red blood cells are round and slightly curved, allowing them to squeeze smoothly through tiny blood vessels. In people with SCD, their red blood cells can become hard and crescent shaped, especially under stress. This shape allows the cells to clump together and stick to the sides of blood vessels, blocking circulation and causing pain and swelling. 

The condition is known as sickle cell anemia because those “sickled” red blood cells last only seven to 20 days—about 1/10th as long as healthy red blood cells and much faster than the body can replace them, resulting in anemia.

Children as young as 6 months old can experience long-term complications from SCD. Signs include: 

  • Fatigue
  • Pain where blockages form
  • Swollen hands and feet 
  • Increased vulnerability to infections 
  • Growth problems 
  • Vision problems 

People with SCD are at increased risk of stroke and other serious complications like organ damage. In addition, the American Society of Hematology estimates the life expectancy for people with SCD to be only 54 years—a full 22 years shorter than the average U.S. lifespan.

Building Awareness

Early detection and treatment are essential to minimize complications from SCD, so U.S. hospitals have been screening newborns for it since 2006. Even so, awareness of SCD, its associated risks and the treatments available to minimize complications is lacking.

Joshua Morales, M.D., a hematologist-oncologist with Blue Ridge Cancer Care who partners with Carilion Children’s and adult providers to support patients with SCD, says that three out of four adults with SCD and frequent pain crises do not receive hydroxyurea, one of the most important recommended therapies for SCD.

“Children with SCD are at even higher risk because they’re still developing,” said Dr. Morales. “Only one in three children with SCD are monitored for stroke, and children who grow up not receiving hydroxyurea end up needing over $500,000 more in care due to complications than those who receive treatment.”

Who Is at Risk?

SCD is a genetic disorder passed from parents to children. The gene for this inherited condition can be traced back for centuries. According to Emily Doherty, M.D., Carilion Clinic chief of medical genetics and dysmorphology, SCD is more common in people of African, Mediterranean, Caribbean and Middle Eastern descent.

“About one in 12 people of African ancestry carry the hemoglobin ‘S’ trait associated with SCD,” she said. “The ‘S’ trait alone doesn’t mean they have the disorder, but if both reproductive partners carry the trait, then the child has a 1 in 4 chance to be affected with SCD.”

While its origins are likely Africa, people all over the world are now at increased risk of giving the gene to their offspring unawares.

Children begin to show symptoms of SCD at around six months of age, and early intervention is essential for the most positive outcomes. 

Comprehensive, Collaborative Care

While there is no simple cure, prevention and early interventions are available to minimize complications. For example, the American Academy of Pediatrics reports that daily antibiotic treatments given to newborns through age five can reduce serious bacterial infections related to SCD by 84%. Clinical trials have led to several new treatments to prevent complications and hospital visits. Cure is now openly discussed through stem cell transplantation and gene insertion trials.  Specialists around the world look forward to a day when the mutant gene is “fixed” or cured by transplantation.

When Minutes Matter

“Stroke is a significant risk for children with SCD,” said Mandy Atkinson, M.D., a pediatric hematologist-oncologist with Carilion Children's, “so helping parents to understand what to watch for and how to respond is an essential part of managing SCD in children.”

It's hard to think about a stroke in a young person, but thinking about that complication may save a life. Children and adults with SCD need regular visits, heightened awareness and to understand they must always be on the alert for new symptoms.

What Can You Do?

Carilion Clinic’s Maternal Fetal Medicine team offers genetic counseling to expectant parents who may be at higher risk of passing SCD on to their children.Testing is simple to obtain.

If you are pregnant or planning to become pregnant, reach out to your primary care physician or OB/GYN to learn more. These steps can also help you, help others and raise awareness about SCD:

  1. Talk to your health care provider about your personal and family risk of having SCD, or trait.
  2. Find a specialist and develop your team of professionals if you or a loved one has SCD.
  3. Learn as much as you can about this disease.
  4. Spread the word to others in your community.
  5. Donate to a worthy charity committed to stamping out this disease, and helping the lives touched by the sickle cell gene.

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