Homozygosity for a unique hemoglobin gene mutation (HBB glu6val, GAG —> GTG, sickle hemoglobin, HbS), located on chromosome 11, causes sickle cell anemia (SCA). Upon deoxygenation, HbS molecules polymerize into intracellular fibers, forming a high molecular weight gel and causing the sickle cell deformity. This process initiates an elaborate and incompletely understood pathophysiological cascade that includes injury to the sickle red cell; intravascular and extravascular hemolysis; adhesive interactions among sickle cells, endothelial cells, other blood cells, and plasma factors; reperfusion injury; and inflammation. As a result of this cascade, vital tissues are injured, impairing their function, causing localized pain (ie, the sickle cell vaso-oclusive crisis) and, in many cases, premature death for the affected individual.
· Lab tests:
· CBC and Automated Differential
· Blood Smear with Interpretation
· Solubility testing
· Hemoglobin electrophoresis
· DNA testing (Prenatal diagnosis)
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