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

Flashcards

Sickle Cell Anemia Cause

A single substitution of valine for glutamic acid in hemoglobin chains.

Hemoglobinopathy vs. Thalassemia

Hemoglobinopathies are abnormal hemoglobin chains, while thalassemias result from reduced normal hemoglobin chain production.

Sickle Cell Red Blood Cells

Red blood cells lose shape and elasticity, leading to easy breakdown.

Hemoglobin Defect

A genetic mutation causing valine substitution in hemoglobin.

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Hemoglobinopathies

A group of genetic disorders resulting from mutations in globin chain genes.

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Thalassemia

Reduced production of normal hemoglobin chains.

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Hemoglobin Synthesis

Process of building correct hemoglobin.

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Red Blood Cell Deformability

The ability of red blood cells to change shape to flow through narrow blood vessels.

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Hemolysis

The destruction of red blood cells.

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Valine Substitution

A change from glutamic acid to valine in the hemoglobin polypeptide chain.

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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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