Diagnosis of sickle cell disease and sickle cell trait can be done through blood testing, using a technique called hemoglobin electrophoresis. Blood tests can be done on children or adults. Many states have laws that require newborn babies to be tested for sickle cell disease before they leave the hospital after birth. Pregnant women can also choose to have their unborn babies tested for the presence of sickle cell trait or sickle cell disease.
Hemoglobin electrophoresis—A small blood sample is taken and sent to a laboratory where the percentage of normal and abnormal hemoglobin is measured.
Sickledex test—A small blood sample is taken and sent to a laboratory. In the laboratory, a substance called a deoxygenating agent is added to the blood sample. If the deoxygenating agent causes at least 25% of the red blood cells to assume a sickle shape, the test is considered positive for the presence of either sickle cell trait or sickle cell disease. Hemoglobin electrophoresis will need to be done to distinguish between sickle cell trait and sickle cell disease.
Amniocentesis—In this test, ultrasound is used to locate the fetus and a pocket of the fluid that surrounds the growing fetus. A long, thin needle is used to remove a small amount of amniotic fluid, which is sent to a laboratory for
mutation-specific DNA testing.
Facts about sickle cell disease. Centers for Disease Control and Prevention website. Available at:
http://www.cdc.gov/ncbddd/sicklecell/facts.html. Updated November 17, 2016. Accessed December 13, 2016.
How is sickle cell disease diagnosed?
National Heart, Lung, and Blood Institute
website. Available at:
Updated August 2, 2016. Accessed December 13, 2016.
Sickle cell disease. Kids Health—Nemours Foundation website. Available at:
http://kidshealth.org/en/parents/sickle-cell-anemia.html. Updated September 2012. Accessed July 1, 2013.
Sickle cell trait. Centers for Disease Control and Prevention website. Available at:
http://www.cdc.gov/ncbddd/sicklecell/traits.html. Updated September 14, 2015. Accessed December 13, 2016.
Last reviewed December 2016 by Marcin Chwistek, MD
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