G6PD deficiency is a genetic disorder that occurs due to deficiency of Glucose-6-phosphate dehydrogenase enzyme which otherwise serves to protect the red blood cells from oxidative stress. G6PD is a vital enzyme that is required to perform several bodily functions.

An individual with G6PD deficiency experience premature breakdown of red blood cells called hemolysis, when red blood cells are destroyed, it leads to hemolytic anemia. G6PD deficiency is major causative factor of jaundice in newborns.

Hemolytic anemia needs immediate treatment as severe hemolytic anemia can cause acute kidney damage. Hemolytic anemia is triggered by microbial infection, smoking, certain drugs and foods.

G6PD deficiency is a genetic disorder, the gene that causes this deficiency is the X chromosomes, which is one of the two sex chromosomes. Men have only one X chromosomes, whereas women have two X chromosomes. So, the risk of G6PD deficiency is more in men than women. As G6PD deficiency kills RBCs, it provides protection against malaria.

Symptoms

  • Paleness
  • Fatigue
  • Increased heart rate
  • Shortness of breath
  • Fever
  • Jaundice
  • Production of dark colored urine

Diagnosis And Treatment

Doctors may recommend certain blood tests to diagnose G6PD enzyme levels which includes complete blood count, hemoglobin and reticulocyte count.

Treatment of G6PD deficiency aims at identification of the trigger factors and its removal. Normally, it does not need any medication. In case of severe hemolytic anemia, blood transfusion is recommended. Certain drugs that cause production of reactive oxygen species are to be avoided by G6PD deficient patients. Some of these drugs are Diamino diphenyl sulfone (Dapsone), Primaquine, Rasburicase (Elitek) and others.