Sickle cell disease.

Area of Science:

• Hematology
• Neurology
• Genetics

Background:

• Sickle cell disease (SCD) is a common inherited blood disorder caused by HBB gene mutation.
• It affects millions globally, with significant childhood incidence.
• Central nervous system (CNS) injury, including stroke and cognitive impairment, is a frequent and debilitating complication.

Purpose of the Study:

• To highlight the prevalence and impact of CNS complications in sickle cell disease.
• To emphasize the link between silent cerebral infarcts (SCI) and cognitive deficits.
• To underscore the cognitive impact of SCD, even in mild cases.

Main Methods:

• Review of existing literature and studies on SCD complications.
• Analysis of data on stroke incidence in children with sickle cell anemia (HbSS).
• Assessment of cognitive function in children with and without SCI, and in adults with SCD.

Main Results:

• 11% of children with HbSS experienced stroke before age 18 prior to screening implementation.
• Silent cerebral infarcts (SCI) affect 27% of children with HbSS by age 5.
• Children with SCI exhibit greater cognitive impairment; adults with mild SCD also show cognitive dysfunction.

Conclusions:

• CNS complications, particularly stroke and SCI, are highly prevalent and impactful in SCD.
• SCI is a significant predictor of cognitive impairment in children with SCD.
• Cognitive dysfunction is a pervasive issue in SCD, affecting individuals across disease severity spectrums.