Dr. Iman Abd
El Mohsen Shaheen
Laboratory Medicine
Healthspring World Clinic
What is glucose-6-phosphate dehydrogenase (G6PD) deficiency?
Causes of G6PD deficiency is an abnormal gene located in the X-chromosome, therefore, it is more common 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 anaemia, which occurs when red blood cells are destroyed faster than the body can replace them.
This type of anaemia 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-dehydrogenase deficiency, hemolytic anaemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anaemia 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.
Treatment is generally discontinuing the drug or compound treating infection. Blood transfusions are necessary in some individual, with close follow up of affected individuals.
