Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

ABSTRACT: More than half a century after the discovery of the molecular basis of Sickle Cell Disease (SCD), the causes of the phenotypic heterogeneity of the disease remain unclear. This heterogeneity manifests with different clinical outcomes such as stroke, vaso-occlusive episodes, acute chest syndrome, avascular necrosis, leg ulcers, priapism and retinopathy. These outcomes cannot be explained by the single mutation in the beta-globin gene alone but may be attributed to genetic modifiers and environmental effects. Recent advances in the post human genome sequence era have opened the door for the identification of novel genetic modifiers in SCD. Studies are showing that phenotypes of SCD seem to be modulated by polymorphisms in genes that are involved in inflammation, cell-cell interaction and mod

SUBMITTER: Driss A 

PROVIDER: S-EPMC2855197 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature