Screening for Sickle Cell Disease
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The purpose of screening is early diagnosis and treatment. Screening tests are usually administered to people without current symptoms, but who may be at high risk for certain diseases or conditions.
Screening Tests
The same tests used to diagnose sickle cell disease can be used to screen for it before symptoms begin. These tests include:
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 amniotic fluid (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 testing.
Screening Guidelines
In many hospitals, screening tests are done on newborn babies before they leave the hospital. Screening tests may also be done on young adults who wish to determine whether or not they and/or their partner carry the sickle cell trait prior to beginning a family. Pregnant women can also choose to have their unborn babies tested for the presence of sickle cell trait or disease.
References:
Cecil Textbook of Medicine . 22nd ed. W.B. Saunders Company; 2003.
National Heart, Lung, and Blood Institute website. Available at: http://www.nhlbi.nih.gov/ .
Sickle Cell Disease Association of America website. Available at: http://www.sicklecelldisease.org/ .
Weiner CM. Harrison’s Principles of Internal Medicine . 17th ed. New York, NY: McGraw – Hill; 2008.
Last reviewed June 2008 by Mark A. Best, MD, MPH, MBA
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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