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Questions and Answers
What is the estimated number of β-thalassemia–causing variants identified in the HBB gene?
What is the estimated number of β-thalassemia–causing variants identified in the HBB gene?
- 100
- 350 (correct)
- 500
- 200
What is the result of reduced or absent production of β-globin in individuals with β-thalassemia?
What is the result of reduced or absent production of β-globin in individuals with β-thalassemia?
- A decrease in red blood cell production
- An excess of unpaired α-globin chains (correct)
- An excess of unpaired β-globin chains
- An increase in iron recycling
What is the composition of the predominant form of adult hemoglobin, HbA?
What is the composition of the predominant form of adult hemoglobin, HbA?
- 3 α-globin chains and 1 β-globin chain
- 2 α-globin chains and 1 β-globin chain
- 2 α-globin chains and 2 β-globin chains (correct)
- 1 α-globin chain and 2 β-globin chains
In which cells do unpaired α-globin chains accumulate in β-thalassemia?
In which cells do unpaired α-globin chains accumulate in β-thalassemia?
What is the role of genetic context in the severity of β-thalassemia?
What is the role of genetic context in the severity of β-thalassemia?
What type of mutation are β-thalassemia–causing variants often?
What type of mutation are β-thalassemia–causing variants often?
Where are certain HBB mutations inherited more frequently?
Where are certain HBB mutations inherited more frequently?
What is the consequence of an excess of unpaired α-globin chains?
What is the consequence of an excess of unpaired α-globin chains?
What is the function of the HBB gene?
What is the function of the HBB gene?
What is the result of the imbalance of α-globin to β-globin chain production?
What is the result of the imbalance of α-globin to β-globin chain production?
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