Genomics and pain research in sickle cell disease: an explanation of heterogeneity?

Abstract

Sickle cell disease (SCD) is a chronic illness, and the major complication, pain, results in complex multidimensional problems that affect an individual's ability to maintain adequate quality of life in multiple areas. Chronic SCD pain is inadequately treated, because it is not well understood, and the degree of chronic pain, clinical presentation, and sequela complications can vary from patient to patient, even among individuals with the same SCD genotype. The reason for this variation is unknown, but the underlying cause might be genetic. Researchers have not explored the contribution of a genomic variable to the occurrence of heterogeneous chronic SCD pain. Previous research on the guanosine triphosphate cyclohydrolase (GCH1) gene suggests that in some cases, phenotypic heterogeneity in human sensitivity to pain correlates with underlying genotypic variations in the GCH1 gene. These findings imply that genotypic variations might also explain why some SCD patients experience more chronic pain than others.