Sickle Cell Diagnoses and Treatment Options

How Is Sickle Cell Disease Diagnosed?

In the United States, newborns are tested for sickle cell disease through routine newborn screening. The test uses a few drops of blood and also checks for many other metabolic or genetic conditions. If screening suggests sickle cell disease or sickle cell trait, more testing is done to confirm the diagnosis.

Blood tests can show whether the body makes hemoglobin S and how much is present. Genetic testing can help confirm the diagnosis, especially if blood test results are unclear. Testing before birth is also possible, using a sample of amniotic fluid or placental tissue.

How Is Sickle Cell Disease Treated?

Sickle cell disease treatment focuses on reducing symptoms, preventing complications, and treating problems when they occur. Treatment plans vary based on a patient’s age, symptoms, disease type, and overall health.

Treatment options can include:

• Medicines, such as hydroxyurea, L-glutamine, or crizanlizumab
• Pain medicine for mild, moderate, or severe pain
• Antibiotics to reduce infection risk in young children
• Blood transfusions for certain complications
• Blood and bone marrow transplant for some patients
• Gene therapy for some patients

Because sickle cell disease can affect many parts of the body, patients in UT Southwestern’s Comprehensive Sickle Cell Program have access to a wide range of specialists as part of their ongoing care. This team-based approach helps address symptoms, prevent complications, and manage related conditions.

Specialists include: