G6PD Deficiency Overview
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Questions and Answers

Which statement accurately describes G6PD deficiency?

  • It is caused by autosomal dominant inheritance.
  • It is primarily characterized by overactivity of the G6PD enzyme.
  • It is associated with significant oxidant stress leading to hemolysis. (correct)
  • It is the most common enzyme deficiency in the glycolytic pathway.
  • What is the primary screening test for G6PD deficiency?

  • Coombs test
  • G6PD fluorescent spot test (correct)
  • Lactate dehydrogenase (LDH) test
  • Complete blood count (CBC)
  • Which of the following findings is NOT typically associated with G6PD deficiency in a peripheral blood smear?

  • Degmacytes
  • Elevated reticulocyte count (correct)
  • Bite cells
  • Heinz bodies
  • Which of the following variants classifies as Class I G6PD deficiency?

    <p>Severely deficient with a high risk of hemolysis</p> Signup and view all the answers

    What is the functional role of G6PD in red blood cells?

    <p>Preventing globin denaturation by oxidation</p> Signup and view all the answers

    Study Notes

    Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

    • G6PD deficiency is an X-linked recessive disorder.
    • It's the most common RBC enzyme deficiency.
    • It affects approximately 400 million people worldwide.
    • It's present in about 5% of the global population.
    • Possible findings in Peripheral Blood Smear (PBS) include Heinz bodies, bite cells, and degmacytes.

    G6PD Deficiency: Testing and Diagnosis

    • Screening test: G6PD fluorescent spot test.
    • Confirmatory test: Quantitative G6PD assay.
    • Autohemolysis test is a screening test for G6PD deficiency.

    G6PD Deficiency Classification

    • Classified by WHO based on G6PD enzyme activity levels.
    • Class I: Severely deficient (<1% activity or not detectable).
    • Class II: Severely deficient (<10% activity).
    • Class III: Mild to moderately deficient (10% to 60% activity).
    • Symptoms of Class I: chronic, hereditary, non-spherocytic hemolytic anemia (most severe, rare).
    • Symptoms of Class II: severe, episodic acute hemolytic anemia associated with infections, certain drugs, and fava beans. Requires possible transfusions during episodes and is not self-limited.
    • Symptoms of Class III: episodic, acute hemolytic anemia associated with infections, and certain drugs. Symptoms are self-limiting.
    • Examples of G6PD Variants: G6PD-Serres, G6PD-Madrid, G6PD-Mediterranean, G6PD-Chatham, G6PD-A, G6PD-Canton.

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    Description

    This quiz covers key aspects of Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, an X-linked recessive disorder affecting red blood cell enzyme activity. It includes details on its prevalence, diagnosis methods, and classification according to WHO standards. Test your understanding of this common enzyme deficiency and its implications.

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