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G6PD Deficiency
Pronunciation
Definition
An inherited disorder in which a person doesn’t have enough of an enzyme called G6PD that helps red blood cells work the way they should. In G6PD deficiency, the red blood cells break down when the body is exposed to infection, severe stress, or certain drugs, chemicals, or foods. This may lead to a condition called hemolytic anemia. This disorder is most common in African-American men and in men of Middle Eastern or Mediterranean descent. Also called glucose-6-phosphate dehydrogenase deficiency. (NCI Dictionary)
More information
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.
If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include
• Paleness
• Jaundice
• Dark urine
• Fatigue
• Shortness of breath
• Enlarged spleen
• Rapid heart rate
A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. (NIH: National Library of Medicine)
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