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Diagnosis of Sickle Cell Disease
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.
Sickle cell disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated June 6, 2013. Accessed July 1, 2013.
Sickle cell disease. Nemours' KidsHealth.org website. Available at: http://kidshealth.org/parent/medical/heart/sickle%5Fcell%5Fanemia.html. Updated September 2012. Accessed July 1, 2013.
Sickle cell disease (SCD). Centers for Disease Control and Prevention website. Available at: http://www.cdc.gov/ncbddd/sicklecell/index.html. Updated September 27, 2012. Accessed July 1, 2013.
What is sickle cell anemia? National Heart, Lung, and Blood Institute website. Available at: http://www.nhlbi.nih.gov/health/health-topics/topics/sca/. Updated September 28, 2012. Accessed July 1, 2013.
- Reviewer: Michael J. Fucci, MD
- Review Date: 05/2014
- Update Date: 05/17/2014