Thalassemia: Causes and Consequences
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Questions and Answers

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?

  • 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?

  • 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?

    <p>Erythroid progenitor cells</p> Signup and view all the answers

    What is the role of genetic context in the severity of β-thalassemia?

    <p>It plays a complex role in the severity of the disease</p> Signup and view all the answers

    What type of mutation are β-thalassemia–causing variants often?

    <p>Point mutations</p> Signup and view all the answers

    Where are certain HBB mutations inherited more frequently?

    <p>In certain regions of the world</p> Signup and view all the answers

    What is the consequence of an excess of unpaired α-globin chains?

    <p>Accumulation of α-globin chains in erythroid progenitor cells</p> Signup and view all the answers

    What is the function of the HBB gene?

    <p>Production of β-globin chains</p> Signup and view all the answers

    What is the result of the imbalance of α-globin to β-globin chain production?

    <p>Thalassemia</p> Signup and view all the answers

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