Glucose-6-phosphate dehyrdogenase deficiency (G6PD) is a condition causing periodic fatigue and illness due to the destruction of red blood cells (hemolytic anemia).
Triggers include specific medications, infections, and contact with certain substances like fava beans. Symptoms include fatigue, jaundice, rapid heart rate, and in severe cases, brown-colored urine. Newborns might show jaundice symptoms. During episodes, bed rest is advised; severe cases may need blood transfusions. Symptoms subside once triggers are removed, often without treatment. Careful avoidance of triggering substances is essential. Medications known to provoke attacks anti-malarial drugs, common painkillers (such as aspirin or ibuprofen), and certain antibiotics. In people with particular genetic mutations, contact with fava beans and moth balls can also provoke attacks.
G6PD is caused by pathogenic (disease-causing) variants in the G6PD gene on the X chromosome and exhibits X-linked recessive inheritance. This means that one pathogenic variant is enough to cause the disease in both males (who have one X chromosome and one Y chromosome) and females (who have two X chromosomes) may experience symptoms depending on how many copies of the X chromosome that has the pathogenic variant are turned on in the cells.
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Revised October 2023
