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Questions and Answers
What type of genetic inheritance pattern does sickle cell anemia follow?
What type of genetic inheritance pattern does sickle cell anemia follow?
What is the primary type of hemoglobin expressed during fetal development?
What is the primary type of hemoglobin expressed during fetal development?
What is the consequence of the DNA substitution in sickle cell anemia?
What is the consequence of the DNA substitution in sickle cell anemia?
What is a characteristic of sickled red blood cells (RBCs)?
What is a characteristic of sickled red blood cells (RBCs)?
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What does βS signify in sickle cell anemia?
What does βS signify in sickle cell anemia?
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Study Notes
Sickle Cell Anemia
- Sickle cell anemia is an inherited, autosomal recessive disorder affecting hemoglobin (Hgb).
- The disorder is caused by a DNA substitution at the β-globin gene.
- Hemoglobin is composed of two α-globin chains and two β-globin chains (α2β2) in adults.
- During fetal development, γ-globin is the primary expressed globin, forming fetal hemoglobin (HbF or α2γ2).
- The genetic mutation causing sickle cell anemia involves the substitution of a thymidine for an adenine in the glutamic acid codon, resulting in a valine instead of glutamic acid at position 6.
- The resulting hemoglobin variant, known as βS, has a more negative charge than normal HbA,
- In the deoxygenated state, the mutated hemoglobin aggregates and polymerizes, causing red blood cells (RBCs) to sickle.
- Sickled RBCs are more rigid and can get stuck in small blood vessels (microvasculature), leading to blockages (vascular occlusions) and the breakdown of red blood cells (hemolysis).
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Description
Explore the genetic basis and implications of sickle cell anemia in this quiz. Learn about the mutation affecting hemoglobin, its impact on red blood cells, and the physiological consequences of the disease. Understand the differences in hemoglobin structure and function in affected individuals.
