G6PD Deficiency - Experience

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What is glucose-6-phosphate dehydrogenase deficiency?

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.

The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism).

Glucose-6-dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms.

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See what others are saying

Comment from: Nikk Flowers, 35-44 Female (Caregiver) Published: May 19

My eldest son at age 18 months became ill with a high grade fever of 106 and was admitted to the hospital and treated with antipyretic medications. Upon discharge he was tested for G6PD deficiency and the results were positive for the disorder. His pediatrician gave us a list of foods and medications to avoid. Twenty years later I had a second son and I had to beg his pediatrician on two separate occasions to test him for the disease and he insisted that there was no way my son could have the disorder as he had only seen the G6PDD once in his medical career of over 20 years. After finally agreeing he gave me a lab slip and I took my 6 month old to a lab for the test and the results were positive for G6PD deficiency. Needless to say the pediatrician was very apologetic, he did give us a new list of medications and foods to avoid and told us to notify medical staff and my son"s school of his condition in the event of our son needing emergency medical treatment in my absence.

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Comment from: Creamcheese, 7-12 Male (Caregiver) Published: June 05

My son is 7 and has G6PD deficiency. As an infant he was always sick especially after given medicines for cold and fever. His fever was always over 105, he would have rapid breathing and his urine was very orangish. I was not made aware until he was 2 that he had this, I had a lot of close calls before, not knowing. After we found out what it was and what to stay away from, he has been just about the perfect kid... until most recently during a regular checkup, his liver test is showing high levels of bile. Doctor states it's not from the G6PD but we are currently doing testing. He's very energetic and intelligent, no major issues. I really watch what he ingests.

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