Raising Awareness for Sickle Cell Disease

While you may have heard the term sickle cell disease, you may not know exactly what the condition is and who it can affect.

Sickle cell disease is an inherited blood disorder, meaning that it is passed down genetically. People who have the condition require lifelong medical management, but thanks to advances in medicines and treatments, they can live full lives while taking some precautions.

To raise awareness for sickle cell disease, Emily Hartman, patient care manager of Lehigh Valley Reilly Children’s Hospital’s Children’s Cancer and Multipurpose Infusion Center, shares answers to common questions people have about this condition:

Sickle cell disease is characterized by defective hemoglobin (a protein that carries oxygen throughout the body), which affects red blood cells.

Normal red blood cells are smooth, round and flexible, which allows them to move through blood vessels easily.

Sickle cell disease causes red blood cells to be stiff, sticky and shaped like the letter “C.” Unlike healthy red blood cells, these sickle cells cluster together and have trouble moving through blood vessels.

“If a blockage forms, it will keep oxygenated blood from traveling to parts of the body that need it,” Hartman says. “This can cause a lot of pain, and it can also lead to other serious health conditions like stroke or problems with the lungs and spleen.”

According to the Centers for Disease Control and Prevention, sickle cell disease affects approximately 100,000 people in the United States.

While anyone can have sickle cell disease, it is most often diagnosed in individuals with African, South American, Caribbean, Central American, Mediterranean, Saudi Arabian or Indian ancestry.

Individuals with sickle cell disease are born with the condition, which they inherit from both of their parents (who either have the disease themselves or are carriers of the sickle cell trait).

“Children can also be born as carriers of the sickle cell trait without having the disease,” Hartman says.

Sickle cell disease is most often diagnosed through newborn screening blood tests, which are standard in most states.

There is no universal cure for sickle cell disease but continued monitoring and medical care can help individuals live their healthiest lives and prevent complications, including episodes of pain (known as pain crises), infections, acute chest syndrome, splenic sequestration (when too many blood cells get trapped in the spleen) and stroke.

In early childhood, individuals with sickle cell disease take penicillin daily and receive specific vaccines to prevent life-threatening infections. To prevent and treat the other complications of sickle cell disease, many patients receive blood transfusions and take medications on a regular basis. One specific medication, hydroxyurea, is widely used to prevent complications in individuals with severe sickle cell disease. Children who qualify for the medication often begin taking it before age 2.

In addition, some individuals with severe sickle cell disease may also be eligible for a stem cell transplant.

At the Children’s Cancer and Multipurpose Infusion Center, Hartman and her fellow clinicians have vast experience caring for children with sickle cell disease.

“Our doctors and nurses offer many of the latest treatments for sickle cell disease and work directly with families to educate them on their child’s condition and what to expect from treatment,” Hartman says.

Patients with sickle cell disease and their families also have access to a social worker, community health worker and child-life specialists.

“We aren’t just here to provide treatment – we are on a mission to provide support and help our patients and their loved ones live full and happy lives,” Hartman says.

Hartman and her colleagues took this mission a step further this past May, hosting an education and recreation event at Dorney Park & Wildwater Kingdom for sickle cell disease patients and their families.

“The event was a great way to educate families on summer safety tips, but it was also a chance to give back to our patients,” Hartman says. “Being diagnosed with a lifelong condition can be tough for kids, and we were so glad that we could give them an opportunity to have fun with their families and care team outside of the clinic.”