Sickle Cell Disease Diagnosis and Testing
November 25, 2024
This page was reviewed under our medical and editorial policy by YunZu (Michele) Wang, M.D., assistant professor, Department of Pediatrics, City of Hope® Cancer Center Duarte
In the United States, most people with sickle cell disease are diagnosed at birth using a simple blood test. It’s important to diagnose the condition early, because this genetically inherited blood disorder can cause serious or even life-threatening health issues, especially for newborns and children.
Sickle Cell Test
Standard newborn screenings in the United States include blood tests that can diagnose a wide range of conditions, including sickle cell disease or trait. For parents who know their child has a high risk of inheriting sickle cell disease, some tests can be performed while the baby is still in the womb. These usually involve testing the amniotic fluid or placenta.
Even if the condition is not diagnosed at birth, a blood test is still the standard way to detect sickle cell disease or sickle cell trait. Genetic tests may also be used to determine which type of sickle cell disease someone has based on how many and what types of gene mutations he or she has.
Sickle Cell Screening Test at Birth
All babies born in the United States are tested for sickle cell disease as part of standard screening recommendations. Within a day or two of birth:
- A doctor or nurse will use a heel prick to collect a blood sample.
- The hemoglobin in that sample is tested for signs of sickle cell disease.
- If the disease is detected, the baby’s doctor may order additional tests, including genetic testing.
- This test can also detect sickle cell trait, which means the person has one gene mutation, instead of the two that cause sickle cell disease. Having sickle cell trait could still lead to sickle cell disease if it’s combined with certain other blood conditions. If two people with sickle cell trait have children, their children are at risk for having sickle cell disease.
National Heart, Lung, and Blood Institute (2024, September 9). Sickle cell disease diagnosis.
https://www.nhlbi.nih.gov/health/sickle-cell-disease/diagnosisAmerican Society of Hematology (2024). Sickle cell disease.
https://www.hematology.org/education/patients/anemia/sickle-cell-diseaseNational Library of Medicine, MedlinePlus (2024, September 6). Sickle cell disease.
https://medlineplus.gov/sicklecelldisease.htmlCenters for Disease Control and Prevention (2024, November 7). About sickle cell disease.
https://www.cdc.gov/sickle-cell/about/index.htmlHealth Resources & Services Administration (2024, September). Newborn screening process.
https://newbornscreening.hrsa.gov/newborn-screening-process