Sickle Cell Disease
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." Select 5-Minute Pediatrics Topics, 7th ed., Wolters Kluwer Health, 2015. Medicine Central, im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14112/2.2/Sickle_Cell_Disease.
Sickle Cell Disease. In: Cabana MDM, ed. Select 5-Minute Pediatrics Topics. Wolters Kluwer Health; 2015. https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14112/2.2/Sickle_Cell_Disease. Accessed December 13, 2024.
Sickle Cell Disease. (2015). In Cabana, M. D. (Ed.), Select 5-Minute Pediatrics Topics (7th ed.). Wolters Kluwer Health. https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14112/2.2/Sickle_Cell_Disease
Sickle Cell Disease [Internet]. In: Cabana MDM, editors. Select 5-Minute Pediatrics Topics. Wolters Kluwer Health; 2015. [cited 2024 December 13]. Available from: https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14112/2.2/Sickle_Cell_Disease.
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