Comorbidities in sickle cell disease: Adult providers needed!

Abstract

SCD was first reported in the western literature in 1910 by Dr. James Herrick, however, it took almost 40 more years until, in 1949, Linus Pauling demonstrated that the disease originated from a mutated haemoglobin (Hb) and then another 18 years when, in 1957, Vernon Ingram discovered that a single amino acid substitution (glutamic acid to valine), due to a change in a single nucleotide (adenine to thymidine), was responsible for the disease[1],[2]g. Under deoxygenated conditions, this mutated HbS undergoes polymerization, leading to intracellular tactoid formation and deformation of the red blood cells to an irreversibly sickled state. Chronic comorbidities such as avascular necrosis (AVN), leg ulcers, pulmonary hypertension (PH), diastolic heart dysfunction, gout, end-stage renal disease (ESRD) and ophthalmologic complications increase with age. The ulcer may limit the mobility of adult patients, who also develop a phobia of being around people or attending social events, especially if they have large ulcers and/or the ulcers have an emanating odour. Because of the stigma, they encounter from having a leg ulcer; these patients may limit their social interaction. [...]the comorbidities in SCD are myriad and substantial and will only increase as the average lifespan increases.