G6PD Deficiency

G6PD deficiency is a genetic condition that affects the red blood cells, which are responsible for carrying oxygen throughout the body. It involves a problem with an enzyme called glucose-6-phosphate dehydrogenase, which helps protect red blood cells from damage. When people with this condition are exposed to certain triggers like some medications, infections, or foods such as fava beans, their red blood cells can break down prematurely, causing hemolytic anemia. This can lead to symptoms like fatigue, jaundice, and dark urine. The condition mainly affects the blood system and can vary in severity depending on the level of enzyme deficiency.

G6PD deficiency is an X-linked recessive enzymatic disorder characterized by a deficiency of the enzyme glucose-6-phosphate dehydrogenase, which plays a critical role in the pentose phosphate pathway. This enzyme deficiency impairs the red blood cells' ability to generate NADPH, leading to increased vulnerability to oxidative stress. The resulting oxidative damage causes hemolysis, especially after exposure to oxidative agents such as certain drugs (e.g., sulfonamides, antimalarials), infections, or ingestion of fava beans. Clinically, it presents as acute hemolytic anemia with symptoms including jaundice, pallor, and dark urine. The condition is most common in populations from malaria-endemic regions due to a protective effect against severe malaria. Diagnosis and management focus on identifying triggers and preventing hemolytic episodes.