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Beta-thalassaemia carrier detection by ELISA: a simple screening strategy for developing countries
M Shyla Ravindran1, Zareen M Patel, M Ikram Khatkhatay
1Genetic Research Centre, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India.
Journal of Clinical Laboratory Analysis
|January 13, 2005
Summary
Beta-thalassaemia is common in India, causing severe health issues. A new, affordable ELISA blood test can detect carriers, enabling prevention programs to reduce affected births.
Area of Science:
- Medical Genetics
- Hematology
- Public Health
Background:
- Beta-thalassaemia poses a significant health burden in India, with high carrier frequencies and substantial numbers of affected births annually.
- Current treatments for beta-thalassaemia major are costly and lead to complications, necessitating effective prevention strategies in resource-limited settings.
Purpose of the Study:
- To develop and evaluate a rapid, simple, and inexpensive Enzyme-Linked Immunosorbent Assay (ELISA) for quantifying Hemoglobin A2 (HbA2).
- To assess the utility of this ELISA method for beta-thalassaemia carrier screening in population-based programs, particularly in developing countries like India.
Main Methods:
- Development of an Enzyme-Linked Immunosorbent Assay (ELISA) for the quantitative measurement of Hemoglobin A2 (HbA2) in human hemolysates.
- Comparison of ELISA results with the established microcolumn chromatography method for beta-thalassaemia carrier screening in a pilot study.
Main Results:
- The developed ELISA method provides a rapid, simple, and cost-effective means for HbA2 quantitation.
- The ELISA method demonstrated good agreement with the microcolumn chromatography method, with a correlation coefficient (r) of 0.89 in a limited trial.
Conclusions:
- The developed ELISA assay is suitable for widespread use in beta-thalassaemia carrier screening programs in India and other developing nations.
- Implementing population screening, genetic counseling, and prenatal diagnosis using this accessible diagnostic tool can significantly reduce the incidence of beta-thalassaemia major.

