Podcast
Questions and Answers
Which statement accurately describes G6PD deficiency?
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?
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?
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?
Which of the following variants classifies as Class I G6PD deficiency?
What is the functional role of G6PD in red blood cells?
What is the functional role of G6PD in red blood cells?
Flashcards
G6PD Deficiency
G6PD Deficiency
A common X-linked recessive disorder causing a deficiency in the G6PD enzyme, which prevents globin denaturation by oxidation.
Pentose Phosphate Pathway
Pentose Phosphate Pathway
Metabolic pathway where G6PD is located, and its dysfunction is a feature of G6PD Deficiency.
Globin Denaturation
Globin Denaturation
A process where a protein (globin) loses its structure, and is prevented by the functional G6PD.
X-linked recessive disorder
X-linked recessive disorder
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Heinz bodies
Heinz bodies
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Bite cells
Bite cells
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G6PD fluorescent spot test
G6PD fluorescent spot test
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Quantitative G6PD assay
Quantitative G6PD assay
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Autohemolysis test
Autohemolysis test
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Type I Autohemolysis
Type I Autohemolysis
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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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