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Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns
François Boemer1, Jean-François Vanbellinghen, Vincent Bours
1Human Genetic Center, CHU Sart-Tilman, University of Liège, B35, 4000 Liège, Belgium. F.Boemer@chu.ulg.ac.be
Insights
A new enzyme-linked immunosorbent assay (ELISA) offers a cost-effective method for neonatal screening of sickle cell disease and other haemoglobinopathies. This immunological approach is suitable for dried blood samples, paving the way for wider implementation.
Area of Science:
- Neonatal screening
- Immunological assays
- Haemoglobinopathies
Background:
- Early diagnosis of sickle cell disease (SCD) is crucial for reducing morbidity.
- Currently, cost-effective screening programs for SCD are limited.
Purpose of the Study:
- To explore the feasibility of systematic newborn screening for haemoglobinopathies using dried blood spots.
- To evaluate a novel enzyme-linked immunosorbent assay (ELISA) for detecting haemoglobin C and S mutations.
Main Methods:
- Collected 27,010 dried blood samples from newborns in Belgium.
- Utilized an ELISA test with a monoclonal antibody to detect haemoglobin (Hb) C and S.
- Confirmed positive results with molecular biology tests.
Main Results:
- Identified 132 positive samples (0.49%) out of 27,010.
- Detected 106 heterozygotes for Hb S, 3 for Hb C, and 3 SS homozygotes (0.011%).
- Observed a false-positive rate of 0.063%.
Conclusions:
- Developed a novel, cost-effective immunological approach for neonatal haemoglobinopathy screening.
- The ELISA test is inexpensive (0.2 euro/test) and suitable for centralized screening.
- The test's accessibility and low cost support its extension to wider populations, particularly in Central Africa.
Setting:
Early diagnosis of sickle cell disease decreases morbidity. However, cost-effective screening programmes are not yet available.
Methods:
We explored the feasibility of systematic screening performed on dried blood harvested from five-day-old newborns.
Results:
A total of 27,010 samples were collected in Belgian maternity units between June 2003 and February 2005, and the presence of haemoglobin (Hb) C or S in the eluted blood was examined by an enzyme-linked immunosorbent assay (ELISA) test performed with a monoclonal antibody detecting both mutated forms. As this antibody slightly cross-reacts with Hb A, better specificity is achieved if the test is performed not later than day 5. Among the 27,010 samples, 132 (0.49%) were positive. Molecular biology tests performed on dried blood from positive samples showed that 106 of these babies were heterozygotes for the Hb S mutation and three were heterozygotes for the Hb C mutation, while three newborns were SS homozygotes (0.011%). Seventeen samples (0.063%) were false-positives as we could not detect any mutation.
Conclusions:
We have developed a new immunological approach in the field of haemoglobinopathy neonatal screening. This ELISA test is cheap (0.2 euro/test or 1800 euro/detected SS homozygote) and could be centralized. Its cost-effectiveness in the whole Belgian population is comparable with that of screening for phenylketonuria or congenital adrenal hyperplasia. Further improvements should obviously be achieved in order to better discriminate heterozygotes and homozygotes, but the accessibility and the low cost of the test are relevant arguments for the screening extension in a wide range of countries, especially in Central Africa.
