Association of Pain Protective Haplotype with Varying Chronic Pain Trajectories Among with Adults with Sickle Cell Disease

Adegbola, Maxine

Tuesday, 1 November 2011: 10:20 AM

Maxine Adegbola, PhD, RN
Nursing, The University of Texas at Arlington, Arlington, TX

Learning Objective 1: The learner will be able to identify at least one gene variant with suggested pain protective properties for adults with sickle cell disease

Learning Objective 2: The learner will be able to identify the paucity of chronic pain research for individuals with sickle cell disease

Sickle cell disease (SCD), a painful, genetic blood disorder and a global health problem, mostly affects individuals who are at risk for inadequately provided healthcare and pain management. Pain, the hallmark of SCD, is persistent, chronic, varying in clinical presentation and is often poorly managed by practitioners, some of whom misunderstand the individual’s clinical presentation, and doubt the veracity of expressed symptoms. Evidence suggests that chronic pain is genetically explained, and such explanation may be applicable to SCD. Despite emerging genomic discoveries, few genomic predictors of chronic pain for individuals with SCD have been described. There exists the critical need to identify reasons for the heterogeneity of chronic pain experiences even among adults with the same SCD genotype, and advance healthcare provision. In the absence of identifying reasons for chronic pain heterogeneity SCD management remains unclear, fragmented and improper and scientific advancement is thwarted.

The objective of this proposal is to determine the association of pain protective gene polymorphisms with chronic pain reports in adults with SCD. The central hypothesis is that mutations in the Guanosine triphosphate cyclohydrolase (GCH1) gene protects against chronic pain in adults with SCD. We have based the hypothesis upon published studies showing polymorphisms in the GCH1 gene provide pain protection. That is, individuals with GCH1 gene variant have less chronic pain. However, none of these pain studies have been done with African Americans with SCD and studies have mostly been done among Caucasians. The rationale for this project is that the identification of pain protection against chronic pain by the GCH1 gene will provide a basis for development of personalized, specific pain therapy. We hypothesize point mutations in the GCH1 gene protects against chronic pain phenotypes in adults with SCD. Thus, individuals with GCH1 gene variant are at lower risk of developing severe chronic pain.

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