Sickle cell anemia is suspected if symptoms include anemia, nausea, or stomach pain, especially in people with African, Spanish, Middle Eastern, Mediterranean, or Indian descent. Blood can be drawn and examined for sickle cells in order to confirm the diagnosis. Hemoglobin electrophoresis can also be performed, in which an electric current separates out abnormal hemoglobin in the blood.
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High-performance liquid chromatography (HPLC): Tests for sickle cell disease (SCD) are performed routinely on newborns in most states. The most reliable SCD test involves a method called high-performance liquid chromatography (HPLC), which separates different forms of proteins in a column and can detect mutant forms of hemoglobin.
Blood sample: Blood samples may also be examined under a microscope for the characteristic sickle-shaped red blood cells. Abnormal red blood cells may be induced to sickle by adding the chemical sodium metabisulphite.
Sickle solubility test: A sickle solubility test may also be performed to diagnose SCD. In this procedure, hemoglobin is added to a sodium dithionite solution. The solution remains clear when normal hemoglobin is added. Abnormal hemoglobin causes the solution to become cloudy.
Hemoglobin may be isolated from blood and separated using gel electrophoresis. During this procedure, different proteins will migrate at different speeds through a gel when an electric current is applied. This allows different forms of hemoglobin to be identified.
Amniotic fluid (prenatal) genetic testing: SCD may be diagnosed in a developing fetus using blood samples. Diagnosis of SCD may also be performed on a developing fetus through amniocentesis, during which the amniotic fluid surrounding the fetus is sampled through a needle. Blood cells from the amniotic fluid may indicate SCD. Genetic tests may also be performed on blood or amniotic fluid. Because taking a blood sample may cause harm to a fetus, taking samples of amniotic fluid is generally preferred. It is important to note that any prenatal test carries a risk of miscarriage.
Chorionic villus sampling (CVS): Chorionic villus sampling (CVS) is another type of prenatal diagnostic test that can detect genetic problems in a fetus. Samples are taken from the chorionic villus or placental tissue. As with any prenatal test, this procedure carries a risk of miscarriage.
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Sickle cell disease is diagnosed when initial tests show abnormal hemoglobin, with more testing if needed. A sickle cell test looks for sickle cell trait and sickle cell disease.
Doctors can diagnose sickle cell disease before a child is born (prenatally). Couples who are at risk for passing on this disease to their children may want to talk with a genetic counselor about prenatal testing.
Prenatal tests include:
- Chorionic villus sampling (CVS)
Sickle cell disease can be diagnosed at birth. Most states in the United States screen all newborns for sickle cell disease along with other common disorders. You can also ask for screening.
Soon after birth, a sample of blood is taken from the infant's heel and sent to a lab, where it is screened for the presence of sickle cell hemoglobin (hemoglobin S).
If one member of a couple has sickle cell disease or sickle cell trait, the other member should be tested before becoming pregnant. This test requires a blood sample, which is screened for the presence of hemoglobin S, hemoglobin C, or beta-thalassemia.
If one or both members of a couple carry a hemoglobin S gene or another abnormal hemoglobin gene, the couple may want to meet with a genetic counselor before becoming pregnant to learn more about their chances of having a child with sickle cell disease. Your doctor can help you find a genetic counselor to discuss a genetic test.
Pulmonary hypertension is a severe, common problem for people who have sickle cell disease. It can be detected early with an echocardiogram, a painless method of measuring blood flow.
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Sickle-cell disease is diagnosed on a blood test looking at the different types of hemoglobin. Sickle-cell disease is often screened for during the newborn period. This is especially important if either parent caries the sickle-cell gene.