Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that primarily affects red blood cells, leading to a range of complications mostly related to the destruction of these cells under certain stress conditions. The core complication of G6PD deficiency is **hemolytic anemia**, which occurs when red blood cells break down faster than the body can replace them. This breakdown is triggered by oxidative stress, which can be caused by infections, certain medications, foods, or other environmental factors.
One of the most well-known complications is **acute hemolytic anemia**. People with G6PD deficiency often remain symptom-free until exposed to oxidative triggers such as fava beans (a condition known as favism), certain antibiotics, antimalarial drugs, or infections like pneumonia or viral hepatitis. When triggered, the red blood cells undergo oxidative damage because they lack sufficient NADPH, a molecule essential for protecting cells from oxidative stress. This leads to the denaturation of hemoglobin and damage to the red blood cell membrane, causing the cells to rupture prematurely. Symptoms during an acute hemolytic episode include fatigue, pallor, jaundice (yellowing of the skin and eyes), dark-colored urine, shortness of breath, and rapid heart rate.
**Neonatal jaundice** is another significant complication seen in newborns with G6PD deficiency. The deficiency can cause early-onset jaundice due to the rapid breakdown of red blood cells shortly after birth. If not managed promptly, this can lead to severe hyperbilirubinemia, which in extreme cases may cause neurological damage known as kernicterus.
In some cases, G6PD deficiency leads to **chronic non-spherocytic hemolytic anemia (CNSHA)**, a persistent form of anemia where red blood cells are continuously destroyed even without obvious triggers. This form is less common but more severe, causing ongoing symptoms like chronic fatigue, pallor, and sometimes enlargement of the spleen due to the increased destruction of red blood cells.
Beyond these primary complications, repeated hemolytic episodes can lead to **iron overload** because the destruction of red blood cells releases iron into the bloodstream. Over time, excess iron can accumulate in organs such as the liver and heart, potentially causing damage if not monitored and managed.
G6PD deficiency also complicates certain medical procedures, such as **cataract surgery**, where the choice of medications is critical. Some drugs used during or after surgery can trigger hemolysis, so careful planning and avoidance of oxidative medications are necessary to prevent complications.
Other less common but serious complications include **acute kidney injury** during severe hemolysis, caused by the release of hemoglobin into the bloodstream, which can damage the kidneys. Additionally, severe infections or sepsis can exacerbate hemolysis and worsen the clinical picture.
Managing G6PD deficiency involves avoiding known triggers, monitoring for signs of hemolysis, and providing supportive care during hemolytic episodes. Patients are advised to avoid certain drugs, foods like fava beans, and to seek prompt medical attention if symptoms such as jaundice, dark urine, or extreme fatigue occur. Regular check-ups and blood tests help monitor the condition and prevent complications.
In summary, the complications of G6PD deficiency revolve around the vulnerability of red blood cells to oxidative damage, leading to acute and chronic hemolytic anemia, neonatal jaundice, iron overload, and potential organ damage. Awareness and careful management are key to minimizing these risks and maintaining health in affected individuals.
