A recently published article in Experimental Biology and Medicine (Volume 247, Issue 17, September, 2022) improves our understanding of pain phenotypes in sickle cell disease. The study, led by Dr. Keesha Powell-Roach in the College of Nursing at the University of Tennessee Health Science Center (Tennessee, USA), describes how catecholamine-O-methyltransferase (COMT) and dopamine receptor D3 (DRD3) haplotypes are associated with pain-related sickle cell disease features and acute care utilization.
Pain, characterized by episodes of acute pain, is a hallmark symptom of individuals living with sickle cell disease, resulting in acute health care utilization. Pain severity and frequency vary significantly among patients with sickle cell disease. In previous studies of COMT and DRD3 gene single nucleotide polymorphisms possible contributions to pain-related acute care utilization in people living with sickle cell disease have been found. The goal of this study was to examine the association among haplotypes of COMT and DRD3 single nucleotide polymorphisms with pain intensity and pain-related acute care utilization in sickle cell disease. Some of the single nucleotide polymorphisms reported in this article are significant and have not been previously reported in pain and sickle cell disease. Identification of genetic contributions to pain may result in a greater understanding of sickle cell disease pain and may lead to improved medical management.
Dr. Roach said: "Despite the high prevalence of painful conditions, African Americans are routinely under-treated for their pain. Although sickle cell disease was first recognized over 100 years ago, progress in therapies have lagged significantly, with pain continuing to be the hallmark symptom for over 100,000 Americans living with sickle cell disease. A significant barrier to adequately address the pain of sickle cell disease is the insufficient information about underlying mechanisms affecting the variable degree and types of pain experienced by patients. In fact, the multiple biological and psychological factors known so far to contribute to other pain conditions are under-studied in sickle cell disease."
Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology and Medicine, said "Dr.Powell-Roach and colleagues found haplotypes in one COMT haploblock and two DRD3 haploblocks that were significantly associated with one or both pain outcomes (average pain intensity and pain-related acute care). This important study paves the way to an improved understanding of genomic contributions to the varying pain phenotypes observed in patients with sickle cell disease.
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Original Source: Pain Intensity in Sickle Cell Disease