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Updated: May 2, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Scope and efficiency of the newborn screening program in identifying hemoglobin S
Maria Lúcia Ivo1, Olinda Maria Rodrigues de Araujo1, Ana Rita Barbieri1
1Universidade Federal de Mato Grosso do Sul (UFMS), Campo Grande, MS, Brazil.
Insights
The National Neonatal Screening Program for hemoglobinopathies in Brazil shows good coverage and efficiency in identifying hemoglobin S. Recommendations include enhanced training and genetic counseling for affected families.
Area of Science:
- Public Health
- Genetics
- Neonatal Care
Background:
- Brazil's National Neonatal Screening Program added hemoglobinopathies in 2001.
- Periodic assessments are vital for monitoring program implementation and goal achievement.
Purpose of the Study:
- To evaluate the scope and efficiency of Brazil's National Newborn Screening Program.
- Specifically assessing the program's effectiveness in identifying hemoglobin S.
Main Methods:
- Cross-sectional study analyzing heel prick test results (2006-2010) in Mato Grosso do Sul.
- High-performance liquid chromatography (HPLC) used for hemoglobin S identification.
- Key variables: coverage, prevalence, and timeliness of diagnosis and consultation.
Main Results:
- Mean coverage rate of 91.77% over five years.
- Prevalence of hemoglobin FAS at 1.65% and hemoglobin FS at 0.011%.
- 87.80% of diagnoses occurred within 28 days; improvements in consultation timeliness noted by 2010.
Conclusions:
- The National Neonatal Screening Program demonstrates good scope and efficiency in identifying hemoglobinopathies.
- Key recommendations include enhanced training, improved post-diagnosis care assessment, and genetic counseling for mothers.
Background:
In 2001, the Brazilian Ministry of Health added hemoglobinopathies to the National Neonatal Screening Program to be implemented in three steps. In order to meet the proposed goals, it is crucial to establish periodic assessments of this program with the aim of monitoring its implementation.
Objective:
To assess the scope and the efficiency of the stages of the National Newborn Screening Program in identifying hemoglobin S.
Methods:
A cross-sectional study was developed with the results of the heel prick test using the high performance liquid chromatography method for babies born in Mato Grosso do Sul from 2006 to 2010. The following variables were investigated: year, number of live births, total screening, coverage ratio, prevalence, time between the child birth and the blood collection; age at diagnosis; age at the time of the first consultation; and time between the diagnosis and the first appointment.
Results:
Over the five years of the study, the mean coverage rate was 91.77%.The prevalences of hemoglobin FAS and hemoglobin FS were 1.65% and 0.011%, respectively. Blood samples from 43.48% of children were collected from the second to the seventh day. The age at diagnosis was within the first 28 days in 87.80% of the screened children. The lowest mean indices for the first consultation and the time between the diagnosis and the first appointment (58.8 and 46.4 days, respectively) occurred in 2010.
Conclusions:
The scope of the National Neonatal Screening Program for hemoglobinopathies is good, with a large number of individuals being tested. Efficiency is a suitable indicator to assess the program steps. Three points are recommended: the training of the individuals involved, studies to assess the assistance provided to the affected child, and genetic counseling to the mothers.
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