Getting answers about sickle cell disease (SCD) isn’t always as simple or timely as it should be. Many people with SCD and their families may face barriers to testing, limited access to specialists, or health concerns that weren’t taken seriously.

In the United States, newborns are screened for SCD, but additional testing is needed to confirm the diagnosis. People who were born before widespread screening or in a country where screening wasn’t available may be diagnosed later in life.

Whether testing happens shortly after birth or later in life, you deserve clear and accurate answers. This article explains how SCD is diagnosed, what blood tests can show, and what may happen after results are received.

Blood Tests That Diagnose Sickle Cell Disease and Trait

Doctors are able to confirm SCD with multiple tests to identify and measure types of hemoglobin in blood samples.

One test checks the blood for anything unusual by separating and measuring the types of hemoglobin in the blood sample. If an abnormal result is found, more tests confirm the findings.

Different types of hemoglobin can help explain which blood condition a person has. For instance:

• People with sickle cell anemia, the most common and usually most severe type, inherit two sickle cell gene variants. This means that their blood has mostly HbS and lacks normal hemoglobin A.
• People with sickle cell trait have both normal hemoglobin A and hemoglobin S in their blood, usually with more hemoglobin A than S.
• Other conditions, such as beta thalassemia, may have different patterns of hemoglobin.

These results can be confusing or emotional, especially if they raise questions about family history or future children. If you want genetic testing to better understand how sickle cell disease is inherited, you can ask your healthcare provider for a referral.

Genetic Testing for Sickle Cell Disease

SCD is passed down from parents to their children. The child must inherit a sickle cell gene from one parent and a sickle cell gene — or other gene variant that affects hemoglobin — from the other parent. This is one reason why genetics and early testing are so critical to providing proper care.

Knowing your status can be helpful even if you don’t feel impacted by symptoms. People with sickle cell trait typically don’t have symptoms, but they can pass the gene down to their children. That makes it all the more important for people to get tested and find out if they have sickle cell trait or another hemoglobin variant.

If both biological parents carry gene variants that could cause sickle cell disease in a child, you may be offered prenatal diagnostic testing to find out before birth if the baby will have SCD.

There are two ways to perform prenatal diagnostic testing for SCD:

• Chorionic villus sampling — Takes a small sample of cells from the placenta
• Amniocentesis — Takes a small sample of the amniotic fluid around the baby

These tests, which are optional, can analyze the baby’s genes to see if SCD or sickle cell trait is present.

Genetic counseling is available to help families make sense of the results. A genetic counselor can explain how SCD is passed down and which testing options are available.

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