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A lower-cost protocol for sickle cell disease neonatal screening in Tunisia
Siala Hajer1, Taboubi Neila, Hadj Fradj Sondess
1Service de Biochimie Clinique-Hôpital d Enfants de Tunis/Laboratoire de Recherche Lab Santé 01, Tunis, Tunisia. hajer.siala@rns.tn
Insights
This study shows a low-cost method for neonatal screening of sickle cell disease (SCD) and other hemoglobin variants. Early detection through this method can improve outcomes for newborns with SCD.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Public Health
Background:
- Sickle cell disease (SCD) is a hereditary anemia causing pain and infections.
- Neonatal screening for SCD enables early intervention with penicillin and vaccination, reducing mortality.
- Current screening methods can be costly, limiting accessibility.
Purpose of the Study:
- To establish a cost-effective neonatal screening protocol for sickle cell disease.
- To evaluate the feasibility of using a lower-cost method compared to commercial kits.
- To detect major abnormal hemoglobin variants in newborns.
Main Methods:
- A pilot study was conducted in two Tunisian maternity hospitals over one year.
- Blood spots from 9148 newborns were collected on paper printed with a standard office printer.
- Isoelectrofocusing (IEF) on lab-prepared agarose gels was used to analyze dried blood samples.
Main Results:
- The IEF method successfully detected key abnormal hemoglobins (HbS, HbC, HbO, HbG) prevalent in Tunisia.
- Screening data showed no statistically significant difference compared to established national data.
- Families received results, and high-risk cases were referred for genetic counseling and prenatal diagnosis options.
Conclusions:
- The pilot study demonstrated the feasibility of a lower-cost neonatal screening for SCD.
- This method also effectively detects other significant structural hemoglobin variants.
- The approach offers a more accessible screening solution for resource-limited settings.
Background And Objectives:
Sickle cell disease (SCD) is a group of hereditary chronic anemias that manifest essentially as painful crisis and susceptibility to infection. Neonatal screening is a preventive action that reduces the rates of mortality due to complications arising from infections by encouraging early prophylactic penicillin use and pneumococcal vaccination. The purpose of this pilot study was to set up a neonatal screening protocol at a lower cost than one that uses commercially available screening kits.
Design And Setting:
Pilot study conducted over 1 year in two Tunis maternity hospitals.
Patients And Methods:
Samples from 9148 newborns were collected using paper printed using a common office printer to collect blood spots from the newborns. A lab-prepared agarose gel for isoelectrofocusing (IEF) was used to test the dried blood samples from these newborns.
Results:
The IEF on lab-prepared agarose gels was efficient since it was able to detect the main abnormal Hbs previously identified in the Tunisian population (HbS, HbC, HbO, and HbG). Furthermore, when data collected in this screening program were compared with the previously established national data, no statistically significant differences were found. After analysis, results were given back to the families of the patients, and the major Hb cases were directed to one of the hemoglobinopathies specialized centers, where at-risk couples benefited from genetic counselling and were informed about the possibility of prenatal diagnosis.
Conclusion:
This pilot experiment demonstrated the feasibility of SCD neonatal detection using a lower cost method as well as detection of other main structural Hb variants.
