Podcast
Questions and Answers
What enzyme is deficient in individuals with G6PD deficiency?
What enzyme is deficient in individuals with G6PD deficiency?
Glucose-6-phosphate dehydrogenase
Name two symptoms of G6PD deficiency.
Name two symptoms of G6PD deficiency.
Dark urine, fatigue
List one trigger that can exacerbate G6PD deficiency symptoms.
List one trigger that can exacerbate G6PD deficiency symptoms.
Ingesting fava beans
How is G6PD deficiency inherited?
How is G6PD deficiency inherited?
Why can females with one altered copy of the G6PD gene have milder symptoms than males?
Why can females with one altered copy of the G6PD gene have milder symptoms than males?
What is the process called when one of the two X chromosomes in females is inactivated?
What is the process called when one of the two X chromosomes in females is inactivated?
What is it called when one X chromosome is active in more than half of the cells?
What is it called when one X chromosome is active in more than half of the cells?
Mention an alternative name for G6PD deficiency.
Mention an alternative name for G6PD deficiency.
What enzyme is defective in individuals with glucose-6-phosphate dehydrogenase deficiency?
What enzyme is defective in individuals with glucose-6-phosphate dehydrogenase deficiency?
What is the most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency?
What is the most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency?
What could trigger hemolytic anemia in someone with glucose-6-phosphate dehydrogenase deficiency?
What could trigger hemolytic anemia in someone with glucose-6-phosphate dehydrogenase deficiency?
What is another significant issue caused by glucose-6-phosphate dehydrogenase deficiency in newborns?
What is another significant issue caused by glucose-6-phosphate dehydrogenase deficiency in newborns?
How many people worldwide are estimated to have glucose-6-phosphate dehydrogenase deficiency?
How many people worldwide are estimated to have glucose-6-phosphate dehydrogenase deficiency?
In glucose-6-phosphate dehydrogenase deficiency, which gene is affected by variants or mutations?
In glucose-6-phosphate dehydrogenase deficiency, which gene is affected by variants or mutations?
How does glucose-6-phosphate dehydrogenase normally protect red blood cells?
How does glucose-6-phosphate dehydrogenase normally protect red blood cells?
Why might people with a G6PD variant be partially protected against malaria?
Why might people with a G6PD variant be partially protected against malaria?
Which population in the United States is particularly affected by glucose-6-phosphate dehydrogenase deficiency?
Which population in the United States is particularly affected by glucose-6-phosphate dehydrogenase deficiency?
What is favism, in the context of glucose-6-phosphate dehydrogenase deficiency?
What is favism, in the context of glucose-6-phosphate dehydrogenase deficiency?
Flashcards
G6PD Deficiency
G6PD Deficiency
A genetic condition where the body lacks or has a reduced amount of the enzyme Glucose-6-phosphate dehydrogenase (G6PD).
Glucose-6-phosphate dehydrogenase (G6PD)
Glucose-6-phosphate dehydrogenase (G6PD)
An enzyme responsible for breaking down harmful oxidants in red blood cells.
Two symptoms of G6PD deficiency:
Two symptoms of G6PD deficiency:
Dark urine, fatigue.
G6PD deficiency trigger:
G6PD deficiency trigger:
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G6PD deficiency inheritance:
G6PD deficiency inheritance:
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Why females may have milder G6PD deficiency:
Why females may have milder G6PD deficiency:
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X-inactivation
X-inactivation
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Skewed X-inactivation
Skewed X-inactivation
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Hemolytic anemia
Hemolytic anemia
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Triggers for hemolytic anemia in G6PD deficiency:
Triggers for hemolytic anemia in G6PD deficiency:
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Jaundice in G6PD deficiency:
Jaundice in G6PD deficiency:
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Estimated number of people worldwide with G6PD deficiency:
Estimated number of people worldwide with G6PD deficiency:
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G6PD gene
G6PD gene
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How G6PD protects red blood cells:
How G6PD protects red blood cells:
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Why a G6PD variant may provide protection against malaria:
Why a G6PD variant may provide protection against malaria:
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US population particularly affected by G6PD deficiency:
US population particularly affected by G6PD deficiency:
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Favism
Favism
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Study Notes
Glucose-6-Phosphate Dehydrogenase Deficiency
- A genetic disorder that affects red blood cells, leading to their premature breakdown (hemolysis)
- Caused by a defect in the glucose-6-phosphate dehydrogenase enzyme, which protects red blood cells from oxidative damage
Hemolytic Anemia
- A common medical problem associated with G6PD deficiency
- Characterized by paleness, jaundice, dark urine, fatigue, shortness of breath, and rapid heart rate
- Triggered by bacterial or viral infections, certain drugs, or eating fava beans
Frequency and Distribution
- Affects approximately 400 million people worldwide
- Most common in Africa, Asia, the Mediterranean, and the Middle East
- Affects about 1 in 10 African American males in the United States
Causes
- Variants (mutations) in the G6PD gene
- Leads to a reduction in the amount of glucose-6-phosphate dehydrogenase enzyme or alters its structure
- Allows reactive oxygen species to accumulate and damage red blood cells
Protective Effect Against Malaria
- Research suggests that G6PD deficiency may provide partial protection against malaria
- Reduced amount of functional glucose-6-phosphate dehydrogenase makes it harder for the malaria parasite to invade red blood cells
Inheritance
- Inherited in an X-linked pattern
- Males are more severely affected due to having only one X chromosome
- Females may have milder symptoms or no symptoms due to having two X chromosomes
- Skewed X-inactivation can lead to symptoms in females with G6PD deficiency
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