Related Experiment Video
Updated: Nov 3, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Techniques for the Detection of Sickle Cell Disease: A Review
Wjdan A Arishi1, Hani A Alhadrami1,2, Mohammed Zourob3
1Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80402, Jeddah 21589, Saudi Arabia.
Insights
Sickle cell disease (SCD) detection methods are reviewed, from traditional tests to advanced portable devices. Early diagnosis of SCD is crucial for effective management and reduced mortality.
Area of Science:
- Hematology
- Genetics
- Medical Diagnostics
Background:
- Sickle cell disease (SCD) stems from a beta-globin gene mutation, producing abnormal hemoglobin S.
- SCD leads to sickled red blood cells, causing hemolysis, anemia, pain, organ damage, and potentially death.
- Early SCD detection is vital for mortality reduction and effective disease management.
Purpose of the Study:
- To review current and emerging techniques for sickle cell disease detection.
- To highlight potential methods for early SCD diagnosis.
Main Methods:
- Overview of screening tests (CBC, peripheral smears, sickling test).
- Review of confirmatory tests (hemoglobin separation techniques, genetic tests).
- Exploration of advanced portable point-of-care techniques (solubility tests, smartphone microscopy, immunoassays, sensor platforms).
Main Results:
- Traditional methods include screening, confirmatory, and genetic tests, often requiring specialized labs.
- Emerging portable techniques offer low-cost, user-friendly, and rapid SCD detection.
- A range of sensitive and specific diagnostic approaches are available.
Conclusions:
- Various diagnostic techniques exist for sickle cell disease and carrier states.
- Advanced portable methods show promise for accessible and early SCD diagnosis.
- Continued development of point-of-care techniques is essential for global SCD management.
Abstract:
Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. The inheritance of the mutation could be homozygous or heterozygous combined with another hemoglobin mutation. SCD can be characterized by the presence of dense, sickled cells that causes hemolysis of blood cells, anemia, painful episodes, organ damage, and in some cases death. Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. These techniques can be screening tests such as complete blood count, peripheral blood smears, and sickling test; confirmatory tests such as hemoglobin separation techniques; and genetic tests, which are more expensive and need to be done in centralized labs by highly skilled personnel. However, advanced portable point of care techniques have been developed to provide a low-cost, simple, and user-friendly device for detecting SCD, for instance coupling solubility tests with portable devices, using smartphone microscopic classifications, image processing techniques, rapid immunoassays, and sensor-based platforms. This review provides an overview of the current and emerging techniques for sickle cell disease detection and highlights the different potential methods that could be applied to help the early diagnosis of SCD.
