Sickle Cell Disease
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.
- 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.
- 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.
- 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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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 MDM, ed. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease. Accessed June 7, 2023.
Sickle Cell Disease. (2019). In Cabana, M. D. (Ed.), 5-Minute Pediatric Consult (8th ed.). Wolters Kluwer. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617275/all/Sickle_Cell_Disease
Sickle Cell Disease [Internet]. In: Cabana MDM, editors. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. [cited 2023 June 07]. 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 -