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Updated: Oct 3, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Neonatal Screening for Sickle Cell Disease in Congo
Alexis Elira Dokekias1,2, Lethso Thibaut Ocko Gokaba1,2, Josué Simo Louokdom1
1Centre National de Référence de la Drépanocytose '' Antoinette SASSOU N'GUESSO, Brazzaville, Congo.
Insights
Sickle cell disease affects over 20% of newborns in Congo, with Hb S being the most common abnormality. This study provides updated epidemiological data on sickle cell disease prevalence in newborns.
Area of Science:
- Genetics
- Public Health
- Pediatrics
Background:
- Sickle cell disease is an inherited blood disorder caused by a mutation in the globin beta chain gene.
- Hemoglobinopathies, including sickle cell disease, represent a significant public health concern globally.
- Accurate epidemiological data is crucial for understanding disease burden and planning interventions.
Purpose of the Study:
- To update epidemiological data on hemoglobinoses in newborns in Congo.
- To determine the prevalence of sickle cell disease and related hemoglobin abnormalities in a newborn population.
- To provide current statistics on sickle cell disease in the Congolese national territory.
Main Methods:
- A descriptive cross-sectional study was conducted from October 2019 to March 2020.
- Newborn blood samples were collected from the heel on Whatman blotting paper.
- High-performance liquid chromatography (HPLC) using the Variant NBS machine was employed for hemoglobin analysis.
Main Results:
- A total of 2897 newborns were screened, with 20.81% exhibiting hemoglobin abnormalities.
- Hemoglobin S (Hb S) was the predominant abnormality, found in 97.71% of affected newborns.
- The national prevalence of major sickle cell syndromes was 1.35%, and sickle cell trait was 19.43%.
Conclusions:
- Findings on homozygous sickle cell disease align with previous research.
- The high prevalence of Hb S underscores the significance of sickle cell disease in Congo.
- Further research is recommended to elucidate the molecular characteristics of observed variants.
Introduction:
Sickle cell disease is an autosomal recessive inherited disorder due to the mutation of a gene coding for the globin beta chain. The aim of this study is to update the epidemiological data on hemoglobinoses, in particular sickle cell disease in newborns in Congo.
Materials And Methods:
This was a descriptive cross-sectional study, conducted from October 1, 2019, to March 31, 2020, throughout the Congolese national territory. It involved all full-term newborns, without distinction of nationality, aged 5 days or less, and whose parents consented to participate in the study. The blood samples, taken at the heel and collected on Whatman blotting paper, were analyzed using the HPLC Variant NBS machine.
Results:
In 2897 newborns (NN) screened, hemoglobin abnormalities were found in 603 NN (20.81%). The mean age of these newborns was 1 day (extremes 0 and 5 days). The male-to-female ratio was 1.03. Abnormal hemoglobins were mainly Hb S (n = 597 (97.71%)); Hb C (n = 5 (0.82%)); and variants (n = 7 (1.15%)). The national prevalence of major sickle cell (MSC) syndromes and sickle cell trait was 1.35% and 19.43%, respectively. The prevalence ranged from 1.77% to 2.56% for MSS in four departments and from 20.5% to 25.8% for the sickle cell trait in six other departments.
Conclusion:
Data on homozygous sickle cell disease remain consistent with previous studies. However, further studies should clarify the molecular anomalies of the variants observed in our samples.
