G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body. G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to hemolytic anemia. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. In people with G6PD deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. It may also be triggered by infections or by certain drugs, such as: antimalarials,sulfonamides,aspirin,some nonsteroidal anti-inflammatory medications (NSAIDs) G6PD deficiency is most prevalent in Africa, where it can affect up to 20 percent of the population. The condition is also more common in men than in women.
Symptoms of G6PD deficiency can include: rapid heart rate shortness of breath urine that is dark or yellow-orange fever fatigue dizziness paleness jaundice, or yellowing of the skin and whites of the eyes
G6PD deficiency is a genetic condition that is passed along from one or both parents to their child. The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency. In females, however, a mutation would have to be present in both copies of the gene. Since it’s less likely for females to have two altered copies of this gene, males are affected by G6PD deficiency much more frequently than females.
Your doctor can diagnose G6PD deficiency by performing a simple blood test to check G6PD enzyme levels. Other diagnostic tests that may be done include a complete blood count, serum hemoglobin test, and a reticulocyte count. All these tests give information about the red blood cells in the body. They can also help your doctor to diagnose hemolytic anemia. During your appointment, it’s important to tell your doctor about your diet and any medications you’re currently taking. These details can help your doctor with the diagnosis. Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels. You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a full recovery without complications.