Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management

Abstract

The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes.

Resolución temporal visual en pacientes con anemia drepanocítica

“…Se ha observado en animales adultos de laboratorio la presencia de un daño permanente en la retina, debido a la hipoxia sufrida en estadios tempranos en el neurodesarrollo; estos animales mostraron una FCF reducida en comparación con los controles utilizados (Bourque, Kuny, Reyes, Davidge, & Sauvé, 2013). En la AD las complicaciones oftalmológicas son relativamente comunes y pueden no ser detectadas en sus estadios tempranos (Ballas et al, 2012). En este trabajo solo controlamos esta variable a partir de la declaración de los propios sujetos.…”

“…Otras formas son: SC, SB 0 y SB + . Los subtipos SS y SB 0 están asociados con una elevada ocurrencia de problemas neurológicos, incluidos infartos cerebrales clínicos o silentes (Ballas et al, 2012) y pobre funcionamiento cognitivo desde la temprana infancia (Schatz & Roberts, 2007). Los accidentes cerebrovasculares se presentan como una de las complicaciones más importantes de la drepanocitosis, que limita el desarrollo potencial pleno de niños y adultos (Detaum, Armstrong et al, 2012) La disfunción neurocognitiva está bien documentada en niños con drepanocitosis (Schatz, Finke, Kellett, & Kramer, 2002) y aunque puede ser una de las consecuencias más importantes de esta enfermedad no ha sido muy estudiada en adultos (Vichinsky et al, 2010).…”

Effects of Age and Sex on Sickle Cell Disease Avascular Necrosis

“…To date, there is no well-established consensus among providers on the management of SCD complications partly because of lack of evidence and because of differences in the experience of the providers [23]. We strongly emphasize on the idea of screening all patients with SCD for AVN to monitor these complications; we hope to establish it as a routine protocol for all patients with SCD, in order to reduce the complications and disability associated with this disease.…”

The Prevalence of Avascular Necrosis in Adults With Sickle Cell Disease in King Fahad Hospital.

“…Osteonecrosis or avascular necrosis (AVN) is a serious complication threatening the quality of SCD patients' lives [8]. It occurs due to complete loss of supply to bones articular surfaces [8]. It has been reported that even patients with mild forms of SCD present with AVN frequently [9].…”

“…Clinically, bone involvement in SCD can be either in acute form such as painful crisis and osteomyelitis or chronic form like osteonecrosis, arthritis, osteopenia and osteoporosis [1]. Osteonecrosis or avascular necrosis (AVN) is a serious complication threatening the quality of SCD patients' lives [8]. It occurs due to complete loss of supply to bones articular surfaces [8].…”