Genetic Modifiers of Sickle Cell Disease

Abstract

Sickle cell disease is one of the best characterized human monogenic disorders. Complex genotype/phenotype correlations clearly demonstrate the interaction of multiple genetic and environmental factors. In the last 20 years, scientific research has applied genetic approaches to dissect some of these modifiers. This review highlights the more recent genetic association studies that have been applied to unravel the genetic modifiers of sickle cell disease including Hb F genetics, and the key genetic variants identified. Illumination of such modifying factors may guide future therapeutic interventions and improve prediction of disease severity, with implications for genetic counseling, prenatal diagnosis and implementation of high risk therapy.

• Sickle cell disease
• Genetic association studies
• Genome-wide association studies (GWAS)