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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.
Insights
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.
Abstract:
The frequency of beta-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. Therefore, health services in lower-economic countries can sustain patients only if the numbers can be limited. Detecting carrier couples by simple blood test can prevent thalassaemia and at-risk couples can be identified and informed of their genetic risk before having children. A prevention programme including population screening, counselling, and prenatal diagnosis will markedly reduce the birth prevalence of affected individuals. Hemoglobin A2 (HbA2) measurement in human hemolysates has great significance, since its level can indicate beta-thalassaemia carrier status in otherwise healthy individuals. We have developed a rapid, simple, and inexpensive enzyme linked immunosorbent assay (ELISA) for the quantitation of HbA2, which can be used in carrier screening programmes in developing countries like India. In a limited trial for beta-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r = 0.89).
