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<< Managing Acute Complications Of Sickle Cell Disease In Pediatric Patients

Etiology And Pathophysiology

Red blood cells function as oxygen-carrying cells. Normal, mature erythrocytes contain no nucleus, have a flexible biconcave shape, and have a 120-day life expectancy. The erythrocyte is packed with hemoglobin molecules essential for oxygen binding. Each hemoglobin molecule (referred to as hemoglobin A, HbA) consists of 4 polypeptide chains: 1 pair of alpha and 1 pair of beta globin chains.16 The most common mutation in the beta globin gene results in a substitution of the amino acid glutamine with valine, producing HbS. Sickle cell disease is the umbrella term used for the condition in individuals whose genotype has at least 1 inherited mutation producing HbS, and excludes HbS carrier states.17

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Last Modified: 07/23/2017
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