A brief review of the pathophysiology, associated pain, and psychosocial issues in sickle cell disease

Abstract

Sickle cell disease (SCD) is the most common genetic disorder of the blood. The disease produces significantly abnormal hemoglobin (Hgb) molecules in red blood cells (RBCs). The sickling of RBCs occurs when partially or totally deoxygenated Hgb molecules distort their normal disk shape, producing stiff, sticky, sickle-shaped cells that obstruct small blood vessels and produce vasoocclusion as well as the disruption of oxygen to body tissues. Because tissue damage can occur at multiple foci, patients with SCD are at risk for other medical complications including, but not limited to, delayed growth and sexual maturation; acute and chronic pulmonary dysfunction; stroke; aseptic necrosis of the hip, shoulders, or both; sickle cell retinopathy; dermal ulcers; and severe chronic pain. The chronicity of the illness combined with frequent hospitalizations for pain and other medical management can contribute significantly to impaired psychosocial functioning, altered intra- and interpersonal relationships, and reduced quality of life. Unlike previous qualitative reviews of SCD, this article describes the relevant clinical and research data on the relation between psychosocial functioning and SCD in adult and child populations. The authors discuss the significant role of psychosocial issues in the trajectory and management of the disease and conclude that understanding the pathophysiology of SCD without thoroughly understanding the equally important psychosocial influences is misunderstanding SCD.

Vesiculation of healthy and defective red blood cells

“…This compression force is balanced by the bending resistance of the membrane [5,11]. As erythrocytes age, the stiffness of the cytoskeleton increase by 20% [13] and its density rise by 30-40% [14] leading to larger compressive forces on the cell membrane. It has then been hypothesized that the curvature of the membrane increases to accommodate the enlarged compression forces causing membrane buckling and formation of protuberances of sizes similar to the cytoskeleton corral-size.…”

Growth Status in Children and Adolescents With Sickle Cell Disease

“…For example, a recent study found a gradual decline in lung function among children with SCD who were classified as underweight and overweight [5]. Also, many children with SCD experience poor growth, low bone density, and delayed skeletal and bone maturation [6] resulting from vitamin deficiencies, high resting energy expenditure rates, chronic pain, and other disease factors [6][7][8][9][10][11]. In addition, studies have found significant weight deficits in SCD that begin in infancy and persist as the child matures into adolescence and adulthood [10,12,13].…”

Can Heterogeneity of Chronic Sickle-Cell Disease Pain Be Explained by Genomics? A Literature Review

“…Thus, past, present, and anticipated pain experiences influence the individual's response to life and pain events. (Edwards, C. L. et al, 2005;Lenoci, Telfair, Cecil, & Edwards, 2002;Max et al, 2006). Pain caused by SCD can be classified as acute, chronic and mixed (Okpala et al, 2002).…”

“…Thus, the gene that encodes for COMT is associated with pain perception and pain may be related to an SNP in the COMT gene. In a 3-year prospective cohort study among healthy female volunteers, Slade et al (2007) There is some evidence that individual differences in basal pain response are predictive of the development of chronic pain in initially pain-free subjects (Diatchenko et al, 2005;Edwards, C. L., et al, 2005;Edwards, R. R., et al, 2005;Edwards, 2005;Slade et al, 2007;Somogyi, Barratt, & Coller, 2007) and that molecular epidemiologic mechanisms can explain the phenotype of pain. With pain no longer attributed solely to neurophysiologic changes, it is clear that the study of pain must include genomic inquiry (Max & Stewart, 2008).…”