Sickle Cell Disease
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Sickle cell disease (SCD) is a hemoglobinopathy caused by a one base pair change leading to an amino acid change in the beta globin gene at the sixth position: glutamic acid to valine. The mutation allows the polymerization of hemoglobin in the red cell.
- Disruption of the red cell membrane: leading to increased adhesion to vascular endothelium, activation of cytokines leading to activation of platelets and leukocytes, activation of the coagulation system leading to a hypercoagulable state and ultimately to vaso-occlusion. Red cells release red cell membrane as microparticles.
- Red cell hemolysis: release of free hemoglobin, methemoglobin production, increased plasma ferric iron leading to oxidative stress, decreased nitric oxide leading to decreased production of cyclic GMP causing vasoconstriction, inflammation, and platelet activation
- 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 in African Americans is 1 in 14.
- There are 70,000–100,000 affected individuals with SCD in the United States.
- SCD is autosomal recessive.
- Combinations leading to the disease state when inherited with hemoglobin S: SS, SC, S beta zero thalassemia, S beta plus thalassemia, S DLos Angeles, and S OArab are examples.