G6PD deficiency
Pronunciation: G-six-P-D
Also written as: G6PD — glucose-6-phosphate dehydrogenase
X-linked enzyme deficiency causing hemolytic anemia triggered by oxidative stress from certain foods, drugs, or infections.
Full Definition
Glucose-6-phosphate dehydrogenase deficiency, an X-linked genetic disorder affecting the enzyme responsible for protecting red blood cells from oxidative damage. This condition predominantly affects males and can cause acute hemolytic episodes when patients are exposed to certain medications (such as antimalarials or sulfonamides), foods (particularly fava beans), or during infections. In pediatric practice, screening is important in at-risk populations, and patient education focuses on avoiding known triggers.
Usage
Usage note: Always specify the triggers when documenting hemolytic episodes.
In Context
- "The patient's G6PD deficiency was triggered by trimethoprim-sulfamethoxazole, causing acute hemolysis." — Emergency department note
- "Newborn screening identified G6PD deficiency, prompting family education about trigger avoidance." — Pediatric follow-up visit