Sickle cell disease is diagnosed when initial tests show abnormal hemoglobin, with more testing if needed. A sickle cell test looks for sickle cell trait and sickle cell disease.

Prenatal testing

Health professionals can diagnose sickle cell disease before a child is born (prenatally). Couples who are at risk for passing on this disease to their offspring may want to talk with a genetic counselor about prenatal testing.

• During pregnancy, doctors use amniocentesis or chorionic villus sampling (CVS) to see whether the fetus has sickle cell disease.
• Some couples choose to end a pregnancy if the fetus is found to have sickle cell disease.

Infant screening

Sickle cell disease can be diagnosed at birth. At least 44 states in the United States screen all children for sickle cell disease along with other common disorders when they are born. Screening is available by request for children in high-risk groups in the other 6 states.⁹

Soon after birth, a sample of blood is taken from the infant's heel and sent to a lab, where it is screened for the presence of sickle cell hemoglobin (hemoglobin S).

Adult screening

If one member of a couple has sickle cell disease or sickle cell trait, the other member should be tested before becoming pregnant. This test requires a blood sample, which is screened for the presence of hemoglobin S, hemoglobin C, or beta-thalassemia.

If one or both members of a couple carry a hemoglobin S gene or another abnormal hemoglobin gene, the couple may want to meet with a genetic counselor before becoming pregnant to learn more about their chances of having a child with sickle cell disease. Your doctor can help you find a genetic counselor to discuss a genetic test.