Sickle cell disease (SCD) is a collection of autosomal recessive genetic disorders involving the abnormal production of hemoglobin. In SCD, red blood cells are short-lived and brittle, assuming a “sickled” shape that hinders their ability to effectively deliver oxygen throughout the body. In addition, impaired red blood cells often aggregate to occlude smaller blood vessels and significantly reduce the amount of oxygenated blood to the lungs and other tissues (Serjeant, 1997). Several SCD variants of graded severity exist including homozygous SCD (HbSS), which is noted to be the most severe, and heterozygous SCD associated with more benign symptoms. In addition, three heterozygous thalassemia deviations occur with varying degrees of clinical manifestation (Helps, Fuggle, Udwin, & Dick, 2003). Individuals who carry the sickle cell trait generally do not experience symptoms associated with the disease (Rees et al., 2003).
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Barakat, L.P., Nicolaou, D.C., O’Hara, E.A., Allen, S.L. (2009). Sickle Cell Disease. In: O'Donohue, W. (eds) Behavioral Approaches to Chronic Disease in Adolescence. Springer, New York, NY. https://doi.org/10.1007/978-0-387-87687-0_19
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