18 Questions
What enzyme is deficient in individuals with G6PD deficiency?
Glucose-6-phosphate dehydrogenase
Name two symptoms of G6PD deficiency.
Dark urine, fatigue
List one trigger that can exacerbate G6PD deficiency symptoms.
Ingesting fava beans
How is G6PD deficiency inherited?
X-linked pattern
Why can females with one altered copy of the G6PD gene have milder symptoms than males?
Because they have two X chromosomes
What is the process called when one of the two X chromosomes in females is inactivated?
X-inactivation
What is it called when one X chromosome is active in more than half of the cells?
Skewed X-inactivation
Mention an alternative name for G6PD deficiency.
G6PDD
What enzyme is defective in individuals with glucose-6-phosphate dehydrogenase deficiency?
Glucose-6-phosphate dehydrogenase
What is the most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency?
Hemolytic anemia
What could trigger hemolytic anemia in someone with glucose-6-phosphate dehydrogenase deficiency?
Bacterial or viral infections, certain drugs, or ingestion of fava beans
What is another significant issue caused by glucose-6-phosphate dehydrogenase deficiency in newborns?
Jaundice
How many people worldwide are estimated to have glucose-6-phosphate dehydrogenase deficiency?
400 million
In glucose-6-phosphate dehydrogenase deficiency, which gene is affected by variants or mutations?
G6PD gene
How does glucose-6-phosphate dehydrogenase normally protect red blood cells?
By preventing reactive oxygen species from building up to toxic levels
Why might people with a G6PD variant be partially protected against malaria?
It makes it more difficult for the malaria parasite to invade red blood cells.
Which population in the United States is particularly affected by glucose-6-phosphate dehydrogenase deficiency?
African American males
What is favism, in the context of glucose-6-phosphate dehydrogenase deficiency?
A reaction caused by eating fava beans or inhaling pollen from fava plants
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
Test your knowledge of Glucose-6-phosphate Dehydrogenase Deficiency, a genetic disorder affecting red blood cells, causing premature breakdown and hemolysis.
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