G-6-PD, RBC
Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for energy production and found in all cells, including red blood cells (RBCs), where it safeguards them from toxic by-products of metabolism. A G6PD deficiency, a genetic disorder affecting over 400 million people worldwide, can lead to RBCs becoming susceptible to breaking apart (hemolysis), particularly when triggered by factors like stress, infections, drugs, or certain substances, like fava beans. This condition, prevalent in African-American, African, Mediterranean, and Southeast Asian populations, arises due to mutations in the G6PD gene and can affect males with a single altered X chromosome or females with one mutated gene copy (heterozygous). Untreated G6PD deficiency in newborns can result in severe jaundice and potential brain damage. Management involves avoiding specific medications, foods, and chemicals, while severe cases may require blood transfusions due to accelerated RBC destruction, which can be life-threatening in some instances.
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