Genetic disorder characterized by red blood cell fragility in response to specific triggers.
Genetic disorder caused by a deficiency in glucose-6-phosphate dehydrogenase (G6PD), an antioxidant enzyme. Triggers hemolysis (red blood cell destruction) upon exposure to certain foods, medications, or infections, particularly fava beans.
G6PD deficiency is linked to a genetic mutation in the G6PD gene on the X chromosome, mainly affecting males and heterozygous females. The G6PD enzyme protects red blood cells from oxidative stress by producing antioxidant molecules. Without this enzyme, red blood cells become vulnerable to oxidation. Exposure to certain factors, such as fava beans, sulfonamide antibiotics, aspirin, or infections, triggers hemolysis with variable symptoms of hemolytic anemia. Management consists of identifying and avoiding triggering foods and substances. Genetic screening is crucial for individuals at risk, particularly those from the Mediterranean basin, Africa, South Asia, and the Middle East.
Produces an antioxidant defense enzyme protecting red blood cells from oxidative stress.
Identify and strictly avoid fresh or dried fava beans and other triggering foods based on individual tests. Consult a physician before taking medications, particularly antibiotics and anti-inflammatory medications. Obtain a molecular diagnosis to confirm the deficiency and adapt individual recommendations.
Patients with glucose-6-phosphate dehydrogenase deficiency must identify personal triggers and strictly avoid them to prevent hemolysis crises.
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