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Tests and diagnosis

By Mayo Clinic staff

A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening done at the hospital. But older children and adults can be tested too.

In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample is then sent to a laboratory, where it's screened for hemoglobin S.

If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present. People who have one gene — sickle cell trait — have a fairly small percentage of hemoglobin S. People with two genes — sickle cell disease — have a much larger percentage of the defective hemoglobin.

Additional tests
To confirm any diagnosis, a sample of blood is examined under a microscope to check for large numbers of sickle cells — a marker of the disease. If you or your child has the disease, a blood test to check for anemia — a low red blood cell count — will be done. And your doctor may suggest additional tests to check for possible complications of the disease.

If you or your child carries the sickle cell gene, you may be referred to a genetic counselor — an expert in genetic diseases.

Sickle cell anemia can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb (amniotic fluid) to look for the sickle cell gene.

Once diagnosed with sickle cell anemia, your child will need to see his or her doctor more often than most children do. For children under 2, ask your child's doctor how frequently checkups need to be scheduled. For youngsters over age 2, at least two visits a year are usually scheduled.

References
  1. Sickle cell anemia. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_All.html. Accessed Feb. 9, 2009.
  2. Sickle cell disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=sicklecelldisease. Accessed Feb. 9, 2009.
  3. Sickle cell anemia. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec11/ch131/ch131i.html#sec11-ch131-ch131i-238. Accessed Feb. 9, 2009.
  4. Rodgers GP. Specific therapies for sickle cell disease. http://www.uptodate.com/home/index.html. Accessed Feb. 9, 2009.
  5. Exjade (prescribing information). East Hanover, N.J.: Novartis; 2008
  6. Reproductive genetic testing. National Human Genome Research Institute. http://www.genome.gov/10004766. Accessed Feb. 9, 2009.

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April 1, 2009

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