Disclaimer: This article is translated with the assistance of AI.
G6PD deficiency is a recessive genetic disorder where patients lack glucose-6-phosphate dehydrogenase (G6PD), hence it’s also known as “G6PD deficiency.”
G6PD is an enzyme that protects red blood cells from damage. Under normal circumstances, patients are just like healthy individuals with no symptoms. However, when exposed to external oxidants—such as eating fava beans or taking certain medications—red blood cells can be rapidly destroyed and break down, causing acute hemolysis and producing bilirubin, which leads to jaundice.
If newborns with G6PD deficiency don’t receive timely treatment during an episode, excess bilirubin can build up in the brain, causing permanent damage to brain cells. This may result in hearing loss, intellectual disabilities, muscle spasms, or even death. That said, as long as patients avoid items that trigger hemolysis, they can live a normal life without issues.
G6PD deficiency is more common in males because the gene responsible for producing G6PD is on the X chromosome. Males have XY chromosomes, so if the X lacks G6PD, they will definitely develop the condition. Females have XX chromosomes; even if one X lacks G6PD, the other can compensate. Though she won’t have the condition herself, she becomes a carrier with a 50% chance of passing the mutated gene to her offspring.
Due to the lack of G6PD enzyme to protect red blood cells, when patients are exposed to oxidants, large numbers of red blood cells are destroyed and break down in a short time, leading to acute hemolysis. The loss of red blood cells happens faster than the body can produce them, causing acute or severe anemia. This results in symptoms like pale complexion, dark brown urine, and yellowing of the eyes (jaundice).
Severity can range from 0 to 16 levels, depending on the degree of G6PD deficiency and the amount of oxidants encountered. Symptoms also vary by age. The lower the level, the more red blood cells burst, and the more severe the symptoms become.
| Children and Adults | Newborns | |
| Mild Symptoms | Anemia, fever, red or brown urine, jaundice, fatigue | Loss of appetite, lethargy |
| Severe Symptoms | Difficulty breathing, rapid heartbeat, kidney failure, shock, coma, or even death | Permanent brain damage leading to intellectual disability, cerebral palsy, hearing loss, or even death |
To avoid acute hemolysis symptoms, people with G6PD deficiency should steer clear of the following items:
Beyond that, pregnant women should inform healthcare providers about their family medical history. If the baby has G6PD deficiency, mothers should avoid fava beans and their products while breastfeeding, and let the doctor know so they can prescribe suitable medications.
Currently, there’s no evidence that peanuts, mint-containing foods, aromatherapy, fabric softeners, mosquito coils, or household medicated oils trigger episodes in G6PD patients. Still, it’s wise to check with a doctor before using them.
Currently, there is no cure for G6PD deficiency. If patients show the symptoms mentioned above, they should seek medical help right away. For mild symptoms, just get plenty of rest and drink lots of water, and wait for the symptoms to fade gradually. But if it’s severe, emergency treatments like blood transfusions or hemodialysis might be needed to lower the hemoglobin levels in the blood.
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