Sickle cell disease (SCD) is a genetic disorder that affects red blood cells. It can be diagnosed through various tests, including:
1. Newborn Screening:
- This is a routine test done on all newborns in the United States to detect SCD.
- A small sample of blood is taken from the baby's heel and analyzed for the presence of abnormal hemoglobin.
- This test can be done within a few days of birth.
2. Hemoglobin Electrophoresis:
- This test separates different types of hemoglobin in the blood.
- It can identify the specific type of hemoglobin associated with SCD.
- This test is usually done after a newborn screening or when SCD is suspected.
3. DNA Testing:
- This test analyzes the DNA to detect the specific gene mutation that causes SCD.
- It can be used to confirm a diagnosis of SCD or to determine if a person is a carrier of the gene.
- This test is often performed in families with a history of SCD.
4. Complete Blood Count (CBC):
- This test measures the number of red blood cells, white blood cells, and platelets in the blood.
- It can help identify signs of anemia, which is a common symptom of SCD.
5. Blood Smear:
- This test examines the shape and appearance of red blood cells under a microscope.
- It can reveal the characteristic sickle shape of red blood cells in people with SCD.
6. Other Tests:
- Other tests may be used to assess the severity of SCD, including:
- Reticulocyte count: Measures the number of immature red blood cells.
- Bilirubin level: Measures the amount of bilirubin, a yellow pigment in the blood, which can be elevated in people with SCD.
- Lactate dehydrogenase (LDH) level: Measures the amount of LDH, an enzyme that can be elevated in people with SCD.
It's important to consult with a healthcare professional for proper diagnosis and management of SCD.
