Doctors may carry out blood tests, prenatal screenings, and various other tests to assess a person’s symptoms and diagnose sickle cell anemia.

Sickle cell anemia is a blood disorder that affects hemoglobin, one of the components of red blood cells. It is an inherited disorder, meaning an individual is born with it. It is the most common disorder in a wider group of health conditions called sickle cell disease (SCD).

It particularly affects individuals of African, Mediterranean, Middle Eastern, Hispanic, and South Asian descent. Timely diagnosis is crucial for effective management and to prevent serious complications associated with the disease.

In this article, we discuss how a doctor diagnoses sickle cell anemia, including what the tests might show if the person has the condition.

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Diagnosing sickle cell anemia typically begins with a thorough medical history review and physical exam. Healthcare professionals will usually ask a person about their symptoms to look for signs of disease.

Some signs of sickle cell anemia include:

Sickle cell anemia symptoms

Some common symptoms of sickle cell anemia include:

The symptoms may vary from person to person and can change over time.

Blood tests play a crucial role in confirming the diagnosis of sickle cell anemia.

A complete blood count (CBC) test can reveal the presence of anemia. Usually, a CBC test will show low hemoglobin levels and a high reticulocyte count, indicating the body’s attempt to compensate for the destruction of red blood cells.

Doctors may also order a peripheral blood smear test to examine the shape and size of red blood cells under a microscope. In sickle cell anemia, the blood smear reveals the presence of sickle-shaped or “C-shaped” red blood cells.

Doctors usually detect sickle cell anemia during pregnancy or soon after birth. Prenatal screening tests can identify the presence of sickle cell trait or sickle cell disease during pregnancy.

One common method is using a sample of amniotic fluid, which is the liquid in the sac surrounding a growing embryo. Another approach is chorionic villus sampling (CVS), which involves using tissue taken from the placenta.

Testing before birth can be done as early as 8–10 weeks into the pregnancy. Doctors look for the sickle hemoglobin gene rather than the atypical hemoglobin itself. However, this testing cannot predict the severity of the disease.

Prenatal genetic testing allows parents to make informed decisions about managing the pregnancy and potential risks to the baby.

In the United States, screening newborns includes a simple pinprick blood test to assess for sickle cell disease and sickle cell trait. Still, most newborns may not have symptoms until they are about 5–6 months old.

Genetic testing is common for diagnosing sickle cell anemia. It involves analyzing a blood sample to identify specific mutations in the sickle hemoglobin gene, also known as the HBB gene.

It can help determine which type of sickle cell disease a person has or can confirm a diagnosis when results from blood tests are not clear.

Genetic testing can assess whether a person has one or two copies of the sickle hemoglobin gene, as well as the inheritance pattern and risk of passing the condition on to future generations.

If both parents have the sickle cell trait (SCT), there is a 50% chance any child of theirs will also have the SCT. However, the parents may not have symptoms of sickle cell anemia, meaning they are carriers. However, carriers can still pass the SCT on to their children.

In addition to blood and genetic tests, healthcare professionals may recommend other diagnostic tests to evaluate the extent of organ damage and complications that may occur with sickle cell anemia.

These may include imaging and urine tests.

X-rays, ultrasound, and MRI scans can assess organ function and detect complications, such as spleen enlargement, gallstones, or bone damage.

Urine tests can assess kidney function and detect the presence of protein or blood. Sometimes, they may signal a person has kidney damage.

Doctors diagnose sickle cell anemia using a comprehensive approach that includes a medical history review, physical exam, blood tests, prenatal screening, genetic testing, and other diagnostic procedures. Early detection is essential for implementing appropriate management strategies and minimizing the risk of complications.

With advances in medical technology and increased awareness, the outlook for individuals living with sickle cell anemia continues to improve, offering hope for better quality of life and outcomes.