G6PD Deficiency Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an inherited genetic disease. G6PD itself is an enzyme that functions to ensure the oxidation process and the normal lifespan of red blood cells (erythrocytes).
In conditions of G6PD deficiency, premature breakdown of red blood cells (hemolysis) occurs so that anemia can occur.
Reason
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is caused by a genetic disorder. This disease is inherited from parents in an X-linked manner. That is, usually the mother becomes a carrier of the disease (carries the disease gene but shows no symptoms) and passes it on to her child.
In boys, generally will show certain symptoms. While in girls generally will become carriers of this disease again.
Symptoms
Many sufferers of Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency do not show significant symptoms. When symptoms appear, this is more associated with hemolysis which causes anemia or a condition of lack of blood that makes a person pale, weak, tired and lethargic.
Hemolytic anemia is also generally triggered by infection (bacteria or viruses), consumption of certain drugs, and consumption of fava plants (vegetable plants in the form of legumes).
Other symptoms that can appear include:
- Increased body temperature accompanied by yellowing of the skin and mucous membranes (eg jaundice or yellowness of the eyes)
- Enlarged spleen (splenomegaly)
- Dark yellow-orange urine
- Paleness, fatigue, deterioration in the general condition of the body
- Heavy and fast breathing
- The pulse is palpable weak and fast
Diagnosis
The doctor may suspect Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency disease and will carry out further evaluation if they see:
- Presence of hemolysis (red blood cells burst) after taking certain drugs or experiencing events that cause oxidative stress. Oxidative stress is a condition of high free radicals in the body that makes the body susceptible to various health problems.
- Unexplained or prolonged hyperbilirubinemia (high bilirubin in the blood) in the neonate.
- Presence of hemolytic anemia
To confirm the diagnosis, several examination steps can be carried out, such as:
- Routine blood tests (may show low hemoglobin)
- Reticulocytes (increased number indicates bone marrow response to anemia)
- Bilirubin (elevated bilirubin can indicate excessive breakdown of red blood cells)
- Urine analysis (looks for red blood cell components in urine)
- Peripheral blood tests (looking for a Heinz body, which is a picture of denatured or inactive hemoglobin)
- G6PD enzymes through blood tests
Treatment
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency disease cannot be cured. What can be done is to avoid hemolysis triggers to prevent the destruction of red blood cells.
Prevention
Patients with Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency should avoid consuming:
- Oxidizing drugs: such as antimalarials
- Several types of antibiotics, for example ciprofloxacin, chloramphenicol
- NSAIDS (Non-Steroid Anti-Inflammatory Drugs)
- Fava plants (legumes)