Sickle Cell Disease Diagnosis
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 your child’s initial newborn screening results show they may have sickle cell disease or trait, further testing can confirm the diagnosis.
Today's Faces of Sickle Cell Disease: Cassandra Trimnell
In 1987, Cassandra Trimnell became the first child in Iowa to be diagnosed with sickle cell disease through the state’s newborn screening program.
Blood test and genetic tests
If you do not know whether you have sickle cell trait or disease, you can find out by having a blood test. Blood tests can determine if your body makes the hemoglobin S protein and how much. Gene testing can tell if you have one or two copies of the hemoglobin S gene. Similar tests can also look for other abnormal hemoglobin types. Genetic tests can help confirm a sickle cell disease diagnosis if results from blood tests are not clear. Some people who have sickle cell disease have one gene for sickle hemoglobin and another gene for a different type of faulty hemoglobin that causes diseases such as thalassemia. Genetic testing or blood tests can check for these conditions.
Prenatal screening
Healthcare providers can also diagnose sickle cell disease before a baby is born. This can be done in two ways. The first uses a sample of amniotic fluid (the liquid in the sac surrounding a growing embryo). The second uses a sample 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 tell you how serious the disease symptoms will be.
Newborn screening
In newborn screening programs, healthcare providers prick the heel of the newborn and collect drops of blood on a special card. A lab tests the hemoglobin in the sample and sends the test results to the provider who ordered the test and to your child’s healthcare provider. The most commonly used tests are high-performance liquid chromatography (HPLC), capillary electrophoresis (CE) and isoelectric focusing (IEF).
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 confirm the diagnosis. They may also recommend genetic testing.
Newborn screening programs also find out whether your baby has sickle cell trait and is a carrier of the hemoglobin S gene. If this is the case, genetic counseling will be offered. Remember that when a child has sickle cell trait or sickle cell disease, their future siblings or your child’s future children may be a carrier of the hemoglobin S gene.
Newborn Screening Programs
All 50 states have newborn screening programs. As a result, nearly all newborns in the United States are screened for sickle cell disease and other treatable disorders. Many other countries have similar programs.