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.