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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?
- Autosomal dominant
- Mitochondrial inheritance
- Autosomal recessive (correct)
- X-linked recessive
What is the primary type of hemoglobin expressed during fetal development?
What is the primary type of hemoglobin expressed during fetal development?
- HbD
- HbS
- HbF (correct)
- HbA
What is the consequence of the DNA substitution in sickle cell anemia?
What is the consequence of the DNA substitution in sickle cell anemia?
- Change from glutamic acid to valine (correct)
- Increased oxygen affinity
- Formation of HbA
- Elimination of α-globin chains
What is a characteristic of sickled red blood cells (RBCs)?
What is a characteristic of sickled red blood cells (RBCs)?
What does βS signify in sickle cell anemia?
What does βS signify in sickle cell anemia?
Flashcards
Sickle cell anemia
Sickle cell anemia
An inherited blood disorder caused by a genetic mutation in the beta-globin gene.
Hemoglobin (Hgb)
Hemoglobin (Hgb)
The protein found in red blood cells that carries oxygen throughout the body.
DNA substitution
DNA substitution
The genetic mutation in sickle cell anemia involves a change in the DNA sequence of the beta-globin gene.
Sickled red blood cells (RBCs)
Sickled red blood cells (RBCs)
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Hemolysis
Hemolysis
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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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