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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.
Anemia
|February 14, 2022
Summary
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.
