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.
The G6PD gene is located on the X chromosome. In males one altered copy of the gene in each cell is sufficient to cause the condition. In females a mutation would have to occur in both copies of the gene to cause the disorder (except in the rare case of X-chromosome inactivation3)
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