Diagnosing Sickle Cell Disease

What is sickle cell disease?

Sickle cell disease is an inherited red blood cell disorder that causes hemoglobin to become irregularly shaped. Hemoglobin is a protein in red blood cells that delivers oxygen throughout the body. Normal red blood cells with hemoglobin are smooth, flexible and round. Sickle cell disease results in hemoglobin evolving into a sickle shape. They also become stiff and stick together, causing difficulty moving through blood vessels. Sickle cell disease can cause blockages in blood flow, resulting in anemia, pain, infections, organ failure, etc.

Diagnosing sickle cell disease

Diagnosis includes a complete medical history and physical exam. Other testing includes newborn screenings, prenatal testing, and blood tests.

• Newborn screenings
  Routine newborn screenings in the United States and seven Canadian provinces (British Columbia, Ontario, Quebec, New Brunswick, Nova Scotia, Yukon, and Prince Edward Island) includes testing for sickle cell disease. This test involves pricking the infant’s heel to gather a blood sample. The blood sample also checks for other conditions that may be present.
• Prenatal testing
  Sickle cell disease in utero can also be diagnosed through prenatal testing. Chorionic villus sampling, or CVS testing, involves collecting a small sample of placenta cells and testing for various conditions. Results are accurate and can detect certain health conditions of the fetus, including sickle cell disease. Amniocentesis testing involves collecting a small sample of amniotic fluid and testing for specific conditions in a lab. CVS testing will typically occur early during pregnancy (usually 10-13 weeks), while amniocentesis testing is usually done after 15 weeks.
• Blood tests
  Adults are often diagnosed through blood tests, including hemoglobin electrophoresis. This test determines whether a person has sickle cell disease and if a person is a carrier of the genetic mutation.