Deficiency glucose-6-phosphateduhydrogenase (G6PD) is a hereditary disease caused by 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 will break down faster than they were formed, causing anemia.
Treatment of G6PD deficiency is done by eliminating the triggering factor. However, if the condition is severe enough, people with G6PD deficiency may require a blood transfusion.
Symptoms of Glu Deficiencycose-6-Phosphate dehydrogenase (G6PD)
G6PD deficiency may not cause any symptoms. However, if many red blood cells burst, the patient may experience symptoms and signs of hemolytic anemia, such as:
- Pale skin.
- The body gets 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 with your pediatrician if your child has the above symptoms of hemolytic anemia. During the child's growth and development, parents need to have regular check-ups with the pediatrician. This examination can be done simultaneously with the child's routine immunization schedule.
If you or your family suffer from G6PD deficiency, talk to your doctor about the possibility of passing this disease on to your child before deciding to have children.
Causes of Deficiency Glucose-6-PhosphateDuhydrogenase (G6PD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations or changes in the gene that produces the G6PD enzyme that can be passed on to children. Mutations in these genes cause people with this disease to lack or not have the G6PD enzyme at all.
This condition will affect 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 be more prone to rupture when triggered by the following factors:
- Consumption fava beans.
- Infectious disease 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 well known, men have an XY chromosome, while women have an XX chromosome. In other words, a woman can only develop G6PD deficiency, if both parents suffer from this disease.
Deficiency Diagnosis Glucose-6-PhosphateDuhydrogenase (G6PD)
The doctor will ask the patient about the symptoms they are experiencing, as well as whether any family members suffer from G6PD deficiency. The doctor will also perform a physical examination to look for signs of anemia, jaundice, and enlarged liver and 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, the doctor 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.
Deficiency Treatment Glucose-6-PhosphateDuhydrogenase (G6PD)
Treatment of G6PD deficiency is to eliminate the triggering factor of this disease. For example, if G6PD deficiency is caused by an infection, the treatment is to eliminate the infection. If symptoms appear after taking the drug, then the treatment is to stop taking the drug.
Symptoms of G6PD deficiency usually stop once the triggering factor is treated. However, if the patient's condition has progressed to hemolytic anemia, more intensive treatment should be given. Treatment includes:
- Giving oxygen to maintain oxygen levels in the blood.
- Blood transfusions to replace damaged blood cells.
ComplicationsDeficiency Glucose-6-PhosphateDuhydrogenase (G6PD)
Continuous G6PD deficiency can trigger 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.
PreventionDeficiency Glucose-6-PhosphateDuhydrogenase (G6PD)
G6PD deficiency is a disease caused by heredity, so it is difficult to prevent. But if you suffer from this disease, you can avoid the trigger factors. For example, by not consuming fava beans and drugs that can trigger symptoms.