![]() ![]() The pathophysiology involves polymerization of deoxygenated HbS, which forms long fibers within erythrocytes and thus creates distortion of cell morphology. Glutamic acid is a negatively charged amino acid and thus prevents red blood cells from sickling. ![]() Because valine is a hydrophobic amino acid, this imparts a sticky adhesive quality and results in sickling. The mutation occurs in exon 1 and changes the nucleic acid sequence from GAG to GTG. Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, replacing the amino acid glutamic acid with the less polar amino acid valine at the sixth position of the β chain. Red blood cells can pass through capillaries that have 50% of the diameter than the red blood cells themselves. They have a biconcave disc structure which allows for maximum oxygen transportation and deformability. Red blood cells lose their organelles and nucleus so they can easily pass through capillaries. Normally, in healthy persons, red blood cells are deformable and flexible, allowing them to pass through vasculature. It is important to understand normal red blood cell physiology prior to understanding the pathophysiology of sickle cell disease. The pathophysiology of sickle cell disease is based on a mutation in the beta-globin chain of hemoglobin, which leads to red blood cell sickling and vaso-occlusive crises. Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S, Shyam Patel Overview Risk calculators and risk factors for Sickle-cell disease pathophysiologyĮditor-In-Chief: C. Sickle-cell disease pathophysiology in the newsīlogs onSickle-cell disease pathophysiologyĭirections to Hospitals Treating Sickle-cell disease Sickle-cell disease pathophysiology On the WebĪmerican Roentgen Ray Society Images of Sickle-cell disease pathophysiologyĪll Images X-rays Echo & Ultrasound CT Images MRIįDA on Sickle-cell disease pathophysiologyĬDC on Sickle-cell disease pathophysiology Natural History, Complications & Prognosis ![]() Differentiating Sickle-cell disease from other Diseases ![]()
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