| Sickle Cell Disease
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Etiology
• Due to single base mutation in the sixth amino acid on the beta globin chain leading to a substitution of glutamic acid for valine
• Autsomal recessive
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Pathogenesis
• Abnormal beta-globin results in polymerization of the
hemoglobin with deoxygenation resulting in a change in red cell shape
• Abnormal cells form occlusive aggregates which result in infarct of the spleen.
• Hemolysis also occurs due to repeat deformations of the red cell.,
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Epidemiology
• 0.3% of African Americans have the disease
• 13% of African Americans are carriers
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General Gross Description
• Small fibrotic brown organ
•Examples:
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General Microscopic Description
• Hemosiderin laden, fibrotic spleen with loss of usual architecture
•Examples:
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Clinical Correlation
• May be associated with pain
• Loss of splenic function
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References
• Damjanov I, Linder J. Anderson's Pathology. 10th edition. St.Louis, Mosby, 1996, pp. 1205, 1208.
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| Sickle Cell Disease
| | Synopsis by: Melinda Sanders M.D. (T07000D41410)[448]
| |