Defisiensi Glucose-6-Phosphate Dehydrogenase (G6PD)

Defisiensi Glucose-6-Phosphate Dehydrogenase (G6PD)

Glu cose -6- ph os ph at e d eh y drogenase ( G6PD ) deficiency is a hereditary disease due to deficiency of the G6PD enzyme. This disease is more common in boys.

The G6PD enzyme helps red blood cells function normally and protect red blood cells from harmful compounds. If the body lacks this enzyme, red blood cells will break down faster than they are formed, causing anemia.

Treatment of G6PD deficiency is carried out by eliminating the trigger factors. However, if the condition is severe enough, the patient requires a blood transfusion.

Causes of G6PD Deficiency

G6PD deficiency is caused by mutations or changes in the gene that produces the G6PD enzyme. Mutations in this gene cause people with this disease to lack or not have the G6PD enzyme at all.

This condition affects the survival of blood cells. If you don't have enough G6PD enzyme, red blood cells will break down more easily.

Red blood cells will also break down more easily when triggered by the following factors:

  • Consumption of fava beans
  • Infectious disease caused by bacteria or viruses
  • Display of napththalene, a compound found in camphor
  • Medicines, such as antibiotics , antimalarials, and pain relievers

G6PD deficiency is more common in boys. This is because the gene that produces the G6PD enzyme is on the X chromosome.

As is known, men have XY chromosomes, while women have XX chromosomes. In other words, a woman can only develop G6PD deficiency if both parents have this disease.

Symptoms of G6PD Deficiency

G6PD deficiency sometimes doesn't cause any symptoms. However, if many red blood cells are broken down, the patient may experience signs and symptoms of hemolytic anemia , such as:

  • Dizzy
  • pale skin
  • Body tired easily
  • Dark urine
  • Yellowing of the skin and whites of the eyes ( jaundice )
  • Enlargement of the liver and spleen
  • Heart pounding
  • Hard to breathe

When to see a doctor                                                                                           

Check with your child to the doctor if you experience the above symptoms. Periodic checks to the pediatrician are also needed during the child's development process. Examinations can be carried out at the same time as the child's routine immunization schedule .

If you or your family suffer from G6PD deficiency, consult with your doctor about the possibility of this disease being passed on to your children, before deciding to have children.

Diagnosis of G6PD . Deficiency

The doctor will ask the patient about the symptoms they are experiencing and a family history of G6PD deficiency. The doctor will also do a physical examination to see signs of anemia, jaundice, and enlarged liver or spleen .

If the doctor suspects that the patient has G6PD deficiency, the doctor will carry out the following supporting examinations:

  • Complete blood
    count Through a complete blood count , doctors can determine the number of red blood cells, proteins, and bilirubin in the blood.
  • Abdominal
    ultrasound Abdominal ultrasound is done to see the possibility of enlargement of the liver and spleen.
  • Genetic
    testing Genetic testing is done through a blood test to examine possible mutations in the G6PD gene.

G6PD . Deficiency Treatment

Treatment of G6PD deficiency is to eliminate the triggering factor of this disease. For example, G6PD deficiency caused by infection is treated by eliminating the infection. Meanwhile, if it is caused by drug consumption, then the treatment is to stop taking the drug.

Symptoms of G6PD deficiency usually stop once the triggering factor is addressed. However, if the patient's condition has progressed to hemolytic anemia, more intensive treatment should be given, such as:

  • Giving oxygen to maintain oxygen levels in the blood
  • Blood transfusions to replace damaged blood cells

Complications Deficiency G6PD

Continuous G6PD deficiency can lead to hemolytic anemia, which is a blood deficiency disease where red blood cells are destroyed faster than they are formed. If left unchecked, patients can experience heart rhythm disturbances , heart muscle abnormalities, or heart failure .

Prevention of G6PD . Deficiency

G6PD deficiency is a disease caused by heredity so it is difficult to prevent. However, avoiding the trigger factors can reduce the risk of developing this disease, for example by not consuming fava beans and drugs that can trigger symptoms.

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