Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD), Causes, Diagnosis, Treatment, Prevention, Complications

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Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD), Causes, Diagnosis, Treatment, Prevention, Complications

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by a deficiency of the enzyme G6PD. This disease is more common in boys.

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

Treatment of G6PD deficiency is done by eliminating the triggering factor. 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 these genes 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 diseases caused by bacteria or viruses
Exposure to naphthalene, a compound found in camphor
Medications, 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 located 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 suffer from this disease.

Symptoms of G6PD . Deficiency

G6PD deficiency sometimes does not cause any symptoms. However, if many red blood cells burst, the patient may experience symptoms and signs 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 beat
Hard to breathe

When to go to the doctor

Check your child to the doctor if you experience the above symptoms. Periodic examinations to the pediatrician are also necessary during the child's growth and development process. The examination can be carried out simultaneously with 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 passing to your child, before deciding to have children.

Diagnosis of G6PD . Deficiency

The doctor will ask the patient about the symptoms experienced and the family history of G6PD deficiency. The doctor will also perform a physical examination to look for signs of anemia, jaundice, and an enlarged liver or spleen.

If the doctor suspects that the patient has G6PD deficiency, the doctor will perform the following investigations:

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 of G6PD . Deficiency

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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