Hemoglobinopathies and Related Disorders Quiz
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Questions and Answers

What is the main cause of sickle cell anemia?

  • Increased production of abnormal hemoglobin chains
  • Single substitution of valine for glutamic acid in hemoglobin chains (correct)
  • Complete absence of hemoglobin chains
  • Decreased production of normal hemoglobin chains
  • What is the difference between hemoglobinopathies and thalassemias?

  • Hemoglobinopathies and thalassemias both result in normal hemoglobin chains
  • Hemoglobinopathies result in decreased production of normal hemoglobin chains, while thalassemias result in abnormal hemoglobin chains
  • Hemoglobinopathies result in abnormal hemoglobin chains, while thalassemias result in decreased production of normal hemoglobin chains (correct)
  • Hemoglobinopathies and thalassemias are the same thing
  • What happens to red blood cells in sickle cell anemia?

  • They become more deformable
  • They lose their deformability and hemolyze easily (correct)
  • They become more resistant to oxygen
  • They become larger in size
  • Study Notes

    Sickle Cell Anemia

    • Sickle cell anemia is caused by a mutation in the HBB gene that codes for hemoglobin subunit beta, leading to the production of abnormal hemoglobin (HbS).

    Hemoglobinopathies and Thalassemias

    • Hemoglobinopathies, such as sickle cell anemia, are inherited disorders caused by mutations in the genes that code for hemoglobin subunits, resulting in abnormal hemoglobin production.
    • Thalassemias, on the other hand, are inherited disorders caused by mutations in the genes that regulate hemoglobin production, leading to a deficiency in one or more hemoglobin subunits.

    Red Blood Cells in Sickle Cell Anemia

    • In sickle cell anemia, red blood cells contort into a sickle shape due to the abnormal hemoglobin (HbS), leading to a reduced lifespan of only 10-20 days (normal lifespan is 120 days).
    • Sickled red blood cells are prone to clotting and can block small blood vessels, causing pain, infections, and organ damage.
    • The abnormal shape of sickled red blood cells also reduces their ability to carry oxygen, leading to anemia and fatigue.

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    Description

    Test your knowledge on hemoglobinopathies and related disorders with this informative quiz! Learn about the abnormal globin polypeptide chains and thalassemias that can cause decreased or absent production of hemoglobin. Discover the widespread mutant genes that cause abnormal hemoglobins and become an expert on this important medical topic.

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