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How Is Sickle Cell Anemia Diagnosed?

A simple blood test, done at any time during a person's lifespan, can detect whether he or she has sickle hemoglobin. However, early diagnosis is very important.

In the United States, all States mandate testing for sickle cell anemia as part of their newborn screening programs. The test uses blood from the same blood samples used for other routine newborn screening tests. The test can show whether a newborn infant has sickle hemoglobin.

Test results are sent to the doctor who ordered the test and to the baby's primary care doctor. It's important to give the correct contact information to the hospital. This allows the baby's doctor to get the test results as quickly as possible.

Health providers from a newborn screening followup program may contact you directly to make sure you're aware of the test results.

If the test shows some sickle hemoglobin, a second blood test is done to confirm the diagnosis. The second test should be done as soon as possible and within the first few months of life.

The primary care doctor may send you to a hematologist for a second blood test. A hematologist is a doctor who specializes in blood diseases and disorders. This doctor also can provide treatment for sickle cell disease if needed.

Doctors also can diagnose sickle cell disease before birth. This is done using a sample of amniotic fluid or tissue taken from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother's womb.)

Testing before birth can be done as early as 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene, rather than the abnormal hemoglobin that the gene makes.

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September 28, 2012