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What Tests Can Reveal Sickle Cell Disorders?
Published: May 08, 2024
Diagnosing sickle cell disorders involves specific tests to identify abnormal hemoglobin. Knowing which tests are used can demystify the process and guide you through diagnosis.
Common Testing Methods
The most common tests include high-performance liquid chromatography (HPLC) and isoelectric focusing, which identify and quantify different hemoglobin types. HPLC is widely used for newborn screening in the United States and provides both qualitative and quantitative results. It is sensitive and specific, but the equipment is costly.
Challenges in Testing
Testing in newborns can be tricky due to the high levels of fetal hemoglobin, which can obscure results. Misdiagnoses can happen if the child has had a blood transfusion or is very premature. Repeat testing or DNA analysis can clarify uncertain results.
Point-of-Care Diagnostics
In low-resource settings, point-of-care diagnostics are being developed. These include paper-based tests and rapid tests using monoclonal antibodies that are cost-effective and easy to use with minimal training. These innovations are especially useful in areas with high rates of hemoglobin disorders.
Frequently Asked Questions
HPLC is a test that identifies and measures hemoglobin types.
Tests may need repeating if results are unclear or after a transfusion.
Yes, point-of-care tests are being developed for such settings.
It separates hemoglobins based on their electrical charge.
The Bottom Line
Accurate testing is crucial for diagnosing and managing sickle cell disorders.
References
- Vrettou C, Traeger-Synodinos J, Tzetis M, et al. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes. Hum Mutat 2004; 23:513.
- Harris MS, Eckman JR. Georgia's experience with newborn screening: 1981 to 1985. Pediatrics 1989; 83:858.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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