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Sickle cell tests can detect sickle cell disease or the gene, with newborns in the US routinely screened. Tests can be done on fetuses or adults, and confirmation may involve a hemoglobin S solubility test or evaluation for hemoglobinopathy.
A sickle cell test is done to assess whether a person has sickle cell disease or the sickle cell gene, which is an inherited trait. In the United States, a sickle cell test is now a necessary part of the newborn screening process, but in many other countries, it is done only after the doctor has identified the baby’s risk of carrying the sickle cell gene. A sickle cell anemia test may be done on a fetus after the 10th week of pregnancy, or a blood test is completed once the baby is born. Adults who are not sure whether they carry the gene can also be tested. Other ways to confirm the diagnosis of sickle cell disease include a hemoglobin S solubility test and an evaluation for hemoglobinopathy.
One type of sickle cell anemia test is done on an unborn fetus. A doctor will insert a needle through the abdomen to extract a sample of the amniotic fluid, then perform a DNA analysis of the fluid to determine if the fetus has a genetic mutation. There are some risks associated with this procedure.
A blood sample may also be taken from a baby’s heel or toe after birth to test for the trait or disease. It’s a good idea to expect the parents to be tested for the gene, and both must be carriers for the disease to develop in a child. Tested blood will show sickle or crescent-shaped red blood cells. These abnormally shaped cells cannot carry enough oxygen to the various organs in the body, and sometimes the cells can cause blood vessels to become clogged.
If a person’s sickle cell test results show elevated levels of sickle cells, further tests may be done to confirm the diagnosis that the person carries the faulty gene, known as hemoglobin S. A hemoglobin S solubility test , performed with a sodium metabisulfite test, is conducted by decreasing the oxygen level in the blood by the addition of foreign substances. This test cannot be done on babies younger than 6 months and will only show that the person has sickle cell trait.
There are numerous types of hemoglobin found in the blood. An evaluation of the hemoglobinopathy will determine the levels of normal and abnormal hemoglobin variants present. Those who carry the sickle cell trait and those with the disease will produce hemoglobin S and this test will be able to determine if levels of the hemoglobin variant are high enough to indicate the presence of the disease.
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