Screening for sickle cell disease in newborns: a systematic review

Area of Science:

• Genetics and наследственные заболевания
• Public Health and Epidemiology
• Pediatrics

Background:

• Sickle cell disease (SCD) is an inherited, autosomal recessive disorder characterized by abnormal hemoglobin (HbS), leading to red blood cell deformation.
• SCD causes hemolysis and vaso-occlusion, posing a high risk of life-threatening complications in early childhood.
• The prevalence of SCD varies regionally, with a predominant occurrence in sub-Saharan Africa.

Purpose of the Study:

• To systematically evaluate the evidence regarding the benefits of newborn screening for sickle cell disease (SCD).
• To assess the impact of early treatment initiation following newborn screening on patient outcomes.

Main Methods:

• A systematic literature search was conducted across major databases (MEDLINE, EMBASE, Cochrane) and trial registries.
• Included studies were randomized controlled trials (RCTs) or non-randomized trials on newborn screening for SCD.
• Data extraction and risk of bias assessment were performed independently by two reviewers; a qualitative summary was used due to the inability to perform meta-analyses.

Main Results:

• One Jamaican retrospective study with historical controls was identified, involving 500 patients with SCD.
• Newborn screening followed by preventive measures demonstrated a tenfold decrease in mortality within the first five years of life.
• The intervention group showed a mortality rate of 0.02% compared to 0.19% in the control group (OR 0.09; 95% CI [0.04; 0.22]).

Conclusions:

• Despite a high risk of bias in the single included study, the substantial reduction in mortality suggests a benefit of newborn screening for SCD.
• Newborn screening followed by preventive measures appears to significantly decrease mortality in infants with sickle cell disease.
• The certainty of these conclusions is considered weak due to reliance on a single study.