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Pediatr Ann. 2020 Jan 1;49(1):e43-e49. doi: 10.3928/19382359-20191210-01.

Sickle Cell Disease: A Primer for Primary Care Providers.

Abstract

Sickle cell disease is an autosomal recessive disorder with significant global impact. This disorder causes the production of a dysfunctional hemoglobin, which leads to sickling of erythrocytes and ultimately hemolysis, endothelial dysfunction, vaso-occlusion, and sterile inflammation. These cellular level processes produce end-organ changes that ultimately result in specific risks and preventive care needs, unique emergency situations, and long-term complications for patients. Options for the treatment of sickle cell disease are increasing. Thus far, hydroxyurea is the most proven treatment and has been shown to reduce vaso-occlusive crises in children and adults and preserve organ function. Other therapies, both disease modifying and curative, are emerging and will hopefully have a substantial effect in the near future. [Pediatr Ann. 2020;49(1):e43-e49.].

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