What is Glucose 6 Phosphate Dehydrogenase Deficiency?
Glucose 6 phosphate dehydrogenase deficiency (G6PD deficiency) is a gene abnormality in the X chromosome that affects red blood cells. G6PD itself is an enzyme that plays a role in various chemical reactions in the cell, one of which is to produce a reduced nicotinamide adenine dinucleotide phosphate (NADPH), which can prevent oxidation-induced cell damage.
Red blood cells that function to transport and circulate oxygen, more susceptible to oxidation compared with other body cells. In people with G6PD enzyme deficiency, red blood cells are easily damaged by various oxidative disorders, such as drugs, chemicals, infections, fava nuts, or ketoacidosis. These conditions cause red blood cells to rupture, which then triggers the occurrence of hemolytic anemia.
Some groups of compounds that can trigger the emergence of hemolytic anemia in people with G6PD deficiency are:
- Antimalaria, a class of drugs used to treat malaria.
- Sulfonamides, a class of drugs used to treat infections.
- Aspirin, a drug used to relieve pain, fever and swelling in the body.
- Some nonsteroidal anti-inflammatory drugs (NSAIDs).
Generally people with G6PD deficiency do not show any specific symptoms (asymptomatic). However, when the patient is exposed to a compound that can trigger oxidation in the cell, hemolytic anemia will occur. Once the compound comes out of the patient’s body, the symptoms of hemolytic anemia will also disappear by itself.
Symptoms of Glucose 6 Phosphate Dehydrogenase Deficiency
Some of the symptoms that arise during the presence of oxidation disorders in patients with G6PD deficiency include:
- Heart rate accelerates.
- Shortness of breath.
- Urine is dark or yellowish.
- The face becomes pale.
- The skin and whites of the eyes become yellowish.
Causes of Glucose 6 Phosphate Dehydrogenase Deficiency
The cause of G6PD deficiency is a mutation in the gene encoding G6PD enzyme located on the X chromosome, which can be inherited from parent to child. The chance of G6PD deficiency in men is greater than in women because men have only one X chromosome.
In women, this condition can occur only if both parents are the sufferers or carriers of the G6PD enzyme gene abnormality factor.
Diagnosis of Glucose 6 Phosphate Deficiency Dehydrogenase
Some diagnostic methods that can be done to detect the lack of G6PD enzymes in a person include:
- Detection of G6PD enzyme activity. G6PD enzyme activity testing method aims to see the enzyme activity in red blood cells. The test is done by taking blood samples of patients then analyzed in the laboratory. In people with G6PD enzyme deficiency, enzyme activity will be found to be lower than enzyme activity in normal people. This test can be repeated several times to get more accurate results. The risks of this test include bleeding, headache, hematoma, and infection.
- Calculation of blood cells. This test is done by counting the number of red blood cells, white blood cells, and blood chips. The goal is to determine whether there is anemia in patients with G6PD deficiency and abnormal blood cell count. In this test, the patient’s blood sample will be taken by the doctor, then calculated through a microscope.
- Serum hemoglobin test. This test is done by measuring the amount of hemoglobin contained in the blood plasma. Normally hemoglobin will be contained in red blood cells and will not be present in the blood plasma. However, if the red blood cells are damaged, there is a possibility of hemoglobin will be contained in the blood plasma. In patients with hemolytic anemia, red blood cells will be damaged quickly so that serum levels of hemoglobin in the blood plasma will increase.
- Calculation of reticulocyte cells. Reticulocyte cells are red blood cells that have not yet matured. Reticulocyte cells are produced in the bone marrow then released through the blood vessels. Reticulocyte examination is done by taking blood samples usually from the veins in the folding elbow. Blood taken then taken to the laboratory to calculate the number of reticulocyte cells. In patients with hemolytic anemia, reticulocyte levels will increase due to damage to red blood cells.
- Genetic examination. Genetic testing can be done as a confirmation of abnormalities in the G6PD enzyme genes. Genetic testing is done by taking DNA samples in patients, then analyzed by detecting DNA mutations.
Some other checks that can be performed to provide more accurate diagnostic results are:
- Examination of peripheral blood-removing preparations.
- Examination of lactate dehydrogenase enzyme levels.
- Examination of bilirubin levels.
- Examination of urine to detect hemoglobin.
Treatment of Glucose 6 Phosphate Dehydrogenase Deficiency
The main goal of treatment of G6PD deficiency is to eliminate the trigger for the symptoms of the deficiency of the enzyme in the patient. If it is caused by an infection, then the treatment given aims to eliminate the infection. If the patient is taking a drug that can trigger the emergence of symptoms of G6PD enzyme deficiency, then the patient should stop taking the drugs.
When hemolytic anemia develops in G6PD deficiency, treatment is aimed at treating anemia, for example by blood transfusions to replace damaged blood cells, as well as oxygen therapy to maintain blood oxygen levels.
Examples of other treatments that can be done in case of G6PD deficiency are:
- Phototherapy for infants. In infants with G6PD enzyme deficiency, phototherapy is performed to eliminate yellowing of the skin. Yellowish in infants with G6PD deficiency is caused by excessive bilirubin levels due to rupture of red blood cells. The method of phototherapy is done by placing the baby on a special incubator that has fluorescent lamps. The light from the fluorescent lamp will be absorbed by the baby’s skin so that bilirubin will be changed and more easily removed from the body through urine and feces.
- Blood transfusion. Blood transfusion can be given to babies who suffer from G6PD deficiency and experience yellowishness. In addition, blood transfusions are also given to patients with G6PD deficiency who have haemolytic anemia, especially those caused by favism (eating fava grains)
- Folic acid supplements. Folic acid can help the formation and maturation of red blood cells. Folic acid in the form of supplements can be given to people with G6PD deficiency who have hemolytic anemia.
- Vaccination Hepatitis A and B. Hepatitis A and hepatitis B can trigger the destruction of red blood cells, especially in people with G6PD deficiency. To prevent infection, patients are required to undergo hepatitis A and B vaccination.
Especially in infants suffering from G6PD deficiency, checking the condition of infants related to excess bilirubin should be routinely performed. The goal is to avoid the occurrence of bilirubin encephalopathy in infants.
In general, people with G6PD deficiency can heal well after the trigger factors of enzyme deficiency are eliminated through treatment. However, it is important for the patient to know the first treatment step when the G6PD deficiency symptoms reappear. It is also important for patients to avoid drugs and foods that can trigger symptoms.