© Copyright 2026 American Medical Association. All rights reserved.
Glucose-6-phosphate dehydrogenase (G6PD) is a critical enzyme that plays a vital role in the metabolic processes of red blood cells. It is essential for the proper functioning of these cells, as it helps protect them from oxidative damage. A deficiency in G6PD can occur due to genetic mutations located on the X chromosome, leading to a reduced level of this enzyme in the body. This deficiency can result in the abnormal breakdown of red blood cells, a condition known as hemolysis. In particular, neonates with G6PD deficiency may experience prolonged jaundice, which is a yellowing of the skin and eyes due to elevated bilirubin levels. Furthermore, individuals with G6PD deficiency are at risk of developing non-immune hemolytic anemia, which can manifest as a crisis in response to various triggers, including infections, certain foods such as fava beans, exposure to specific chemicals, or the use of certain medications. The screening for G6PD deficiency is performed through a blood test, specifically utilizing the Beutler fluorescent spot test, which detects the presence of the enzyme in the blood. This screening is crucial for identifying individuals at risk and managing their health effectively.
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