Sick with sickle

According to the American Society of Hematology, sickle cell disease (SCD) is considered the most common inherited blood disorder in the world, yet many people are unfamiliar with what it is, what the symptoms are or whether they carry the gene.

In patients with SCD, the red blood cells are rigid and shaped like a “C,” or sickle. The cells can then get stuck and block blood flow to specific organs, resulting in pain and infections.

Here are the top 5 things you should know about sickle cell disease, according to the experts:

1. A child gets sickle cell disease when he or she inherits the gene from both parents.

Since SCD is passed through genetics, all newborns in the United States are tested to identify the disease early on.

“The goal is to get these infants seen by a pediatric hematologist to review the diagnosis and start care within the first two months of their lives,” said Cynthia Gauger, MD, a pediatric hematologist/oncologist with Nemours Children’s Health, Jacksonville, who treats SCD patients at Wolfson Children’s Hospital. “Early diagnosis, education and treatment have significantly improved survival and quality of life in our pediatric population.”

For a child to inherit SCD, both parents must have either sickle cell disease (two sickle cell genes) or sickle cell trait (one sickle gene). If both parents carry the sickle cell trait, each child has a 1 in 4 chance of inheriting sickle cell anemia. If the parent has sickle cell disease and the other parent is a carrier, there's a 50% chance of inheritance.

2. It affects millions around the world.

SCD is most common among people whose ancestors come from:

• Sub-Saharan Africa
• Spanish-speaking regions in the Western hemisphere (South America, the Caribbean and Central America)
• Saudi Arabia
• India
• Mediterranean countries (Turkey, Greece and Italy)

3. Sickle cell disease is manageable and treatable, and those with SCD can live long and healthy lives.

More than 95% of newborns with SCD in the United States will live to be adults.

“Knowledge is everything and education is critical,” said Dr. Gauger. “In the newborn period, the most important things to do are to make the diagnosis, start the education process for the parents and be sure immunizations are up to date.”

People with SCD can lower their risks of complications and enjoy normal activities by going to their routine checkups, following their treatments and taking steps to prevent infections.It's also helpful to incorporate healthy habits like eating a balanced diet, staying hydrated and exercising on a regular basis to promote overall health.

4. Complications can be present at birth and continue into adulthood.

The symptoms and complications of SCD are different for each person and can range from mild to severe throughout the entire body.

“A key message that people need to understand is that sickle cell disease involves almost every organ in the body,” said Dr. Gauger. “It’s not just anemia.”

Complications may include:

• Infection
• Acute chest syndrome (a condition that lowers the level of oxygen in the blood)
• Anemia
• Blood clots in the spleen
• Episodes of extreme pain
• Stroke

“In patients at high risk for stroke, regular blood transfusions or medication can help prevent a life-threatening emergency,” said Philipp Aldana, MD, a pediatric neurosurgeon with the UF College of Medicine – Jacksonville, and chief of pediatric neurosurgery for Wolfson Children’s Hospital. “Some children with sickle cell disease who have narrowing of blood vessels in their brain can also be treated with bypass surgery to improve blood flow and minimize their risk of stroke.”

5. In some cases, sickle cell disease can be cured.

A bone marrow transplant, which involves collecting healthy cells from a donor’s bone marrow and transferring them to a patient with SCD, can sometimes be successful. To undergo a bone marrow transplant, the patient with SCD must find a matched donor.

While this isn't the best option for all patients, medications and other treatments are available to help with the complications. It’s important for physicians to educate patients about what’s available for each individual situation.

The Sickle Cell Program at Wolfson Children’s Hospital provides specialized treatment and comprehensive care for children born with this condition. To learn more, click here or call 904.697.3600.

Sources: Centers for Disease Control and Prevention, American Society of Hematology