mixed race mom comforts young daughter

With September being Sickle Cell Disease Awareness Month, Loma Linda University Children’s Health wants to help educate the community about SCD — one of the most common yet overlooked genetic disorders in the world.

Each year, approximately 1,000 babies in the U.S. and 500,000 worldwide are born with the disease, according to the Sickle Cell Disease Association of America.

Akshat Jain, MD, MPH, a global sickle cell disease expert at Children’s Hospital, is passionate about establishing awareness and proper care for children suffering from SCD and Sickle Cell Trait, especially the diverse patient population in San Bernardino County.

“There are many barriers to receiving care for those with SCD in our community,” Jain says. “One barrier specifically is lack of awareness surrounding the disease coupled with lack of awareness surrounding the treatment options available at Children’s Hospital.”

What is Sickle Cell Disease?

“In sickle cell disease, a person’s red blood cells have an irregular cell shape,” Jain says. “Instead of round discs, they’re in a crescent or sickle shape.”

Due to their shape, texture and inflexibility, the cells become clumped together. This grouping causes a blockage in a child’s blood vessels, hindering blood-flow. This blockage may cause varying levels of pain and potentially organ damage long-term.  

Jain says some of the signs and symptoms of SCD include:

  • Acute pain throughout any area of the body. While many episodes have no clear trigger, common denominators include dehydration, infections, psychological stress and even weather changes. The onset pain can last several hours to several days. Finally, while some children may be able to handle their pain at home, others will need hospital treatment for more severe pain. 
  • Anemia is one of the most common symptoms of SCD. This symptom can cause a child to have paleness in their complexion, tiredness, dizziness, irritability, exercise intolerance, difficulty focusing, etc.
  • Jaundice or yellowing of the skin and eyes is also a common symptom.

How is Sickle Cell Disease diagnosed?

Jain says that many children with SCD develop symptoms in their first year of life. SCD is commonly diagnosed during newborn screening tests, which check for the abnormal hemoglobin found in SCD. Additionally, if both parents of a child are known carriers of a SCD trait, their child will have a 25% chance of having the disease, Jain says.

Emergent Issues Caused by Sickle Cell Disease

Some of the emergent issues needing immediate medical care in kids with SCD disease include:           

  • Infections. Jain says it’s important for a parent to watch for high fevers of 101 degrees or more — the fever may be a sign of a bacterial infection and is a medical emergency.
  • Acute chest syndrome. This syndrome is inflammation or blood cell blockages in a child’s lungs, causing chest pain, difficulty breathing, coughing and fever.
  • Stroke. Children with SCD are at risk of their irregularly shaped cells blocking blood to their brain and causing a stroke. Parents should be aware of the signs of a stroke, including seizures, limb weakness, headache, issues speaking, loss of consciousness or drooping of the face.

What are the treatment options?

Treatments for SCD include pain medicines for pain management, adequate hydration, blood transfusions, vaccines and antibiotics, and some medicines. Currently, stem cell transplant from bone marrow is the recognized cure for SCD.

Children’s Hospital, with Jain working as a lead on the team, performed the institution’s first stem cell transplant in 2019, curing a then 11-year-old girl who had suffered from SCD since birth. Since then, the team has successfully performed the transplant on several pediatric patients.

Patients with SCD at Children’s Hospital are placed into a treatment and care program where Jain and his team offer non-traditional services such as individualized patient treatment plans and direct access to the care team in case of an emergent event. Additionally, the program is working toward offering curative gene therapy for both sickle cell and hemophilia patients.

“The bottom line is children and families suffering from this disease need to know that they’re not alone,” Jain says. “Here at Children’s Hospital, we are here to manage and fight this disease alongside of you.”

Learn more about our treatments for sickle cell disease at our Specialty Team Centers.