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Sickle Cell Disease

Sickle Cell Disease is a topic covered in the 5-Minute Pediatric Consult.

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Basics

Description

Sickle cell disease (SCD) is a disease caused by a homozygous inheritance of a one base pair change leading to an amino acid change in the beta globin gene at the sixth position: glutamic acid to valine on chromosome 11. The mutation leads to undesired polymerization of hemoglobin in the red cell causing membrane distortion which has systemic effects on the host.

Epidemiology

  • The incidence of SCD is 1 in 500 African Americans, 1 in 36,000 Hispanics, with a lesser frequency in other ethnic groups. The incidence of sickle cell trait (SCT) in African Americans is 1 in 14.
  • There are 70,000 to 100,000 affected individuals with SCD in the United States.

Risk Factors

Genetics

  • SCD is autosomal recessive.
  • The disease can be caused by homozygous inheritance of beta globin with the S mutation or by inheriting the mutated beta globin S with an additional beta globin mutation such as abnormal beta globin causing hemoglobin C, beta thalassemia, or DLos Angeles, and OArab.

Pathophysiology

  • Membrane distortion caused by this abnormal hemoglobin leads to: increased adhesion to vascular endothelium, activation of cytokines leading to activation of platelets and leukocytes, and ultimately to vaso-occlusion.
  • Extravascular hemolysis causes release of free hemoglobin and subsequent oxidative stress causing vasoconstriction, inflammation and platelet activation.

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Citation

Cabana, Michael D., editor. "Sickle Cell Disease." 5-Minute Pediatric Consult, 8th ed., Wolters Kluwer, 2019. Pediatrics Central, peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease.
Sickle Cell Disease. In: Cabana MD, ed. 5-Minute Pediatric Consult. 8th ed. Wolters Kluwer; 2019. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease. Accessed April 19, 2019.
Sickle Cell Disease. (2019). In Cabana, M. D. (Ed.), 5-Minute Pediatric Consult. Available from https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease
Sickle Cell Disease [Internet]. In: Cabana MD, editors. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. [cited 2019 April 19]. Available from: https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Sickle Cell Disease ID - 617275 ED - Cabana,Michael D, BT - 5-Minute Pediatric Consult UR - https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease PB - Wolters Kluwer ET - 8 DB - Pediatrics Central DP - Unbound Medicine ER -