Sickle Cell Disease Diagnosis

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If you or your child has symptoms of sickle cell disease, your healthcare provider may use a number of tests to diagnose the condition.

If you do not know whether you make sickle hemoglobin, you can find out by having your blood tested. You may also have a genetic test. This way, you can learn whether you carry a genes  — or have the trait — for sickle hemoglobin that you could pass on to a child.

Genetic testing can help determine which type of sickle cell disease you have or confirm a diagnosis if results from blood tests are not clear. Genetic testing can also tell whether you have one or two copies of the sickle hemoglobin gene.

Healthcare providers can also diagnose sickle cell disease before a baby is born. This is done using a sample of either amniotic fluid (the liquid in the sac surrounding a growing embryo) or tissue taken from the placenta (the organ that attaches the umbilical cord to the womb).

Testing before birth can be done as early as 8 to 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin itself. This testing cannot predict the severity of the disease.

In newborn screening programs, drops of blood from a heel prick are collected on a special type of paper. The hemoglobin from this blood is then tested in a lab. Newborn screening results are sent to the provider who ordered the test and to your child’s healthcare provider.

Providers from a special follow-up newborn screening team will contact you directly if your child has sickle cell disease. Your child’s providers will then retest your child to make sure the diagnosis is correct.

Newborn screening programs also find out whether your baby has the sickle cell trait and is a carrier. If this is the case, counseling will be offered. Remember that when a child has sickle cell trait or sickle cell disease, their future siblings or future children may be at risk.