Treatment Information Summary Sheet: G6PD Deficiency
1. What is G6PD Deficiency?
Glucose-6-phosphate dehydrogenase (G6PD enzyme) is a protein attached primarily to the membrane of red blood cells in the body, functioning to protect the structural integrity of the cell membrane.
G6PD deficiency makes red blood cells in the blood vulnerable and prone to destruction (hemolysis) when exposed to oxidizing agents (infections, certain medications, fava beans, etc.).
G6PD deficiency is an X-linked recessive genetic disorder, which is why it manifests more frequently in boys than in girls. However, a girl can still exhibit G6PD deficiency if she inherits the mutated gene from both parents (homozygous recessive).
There are approximately 500 million people affected by G6PD deficiency worldwide. Currently, about 230 types of gene mutations related to G6PD deficiency have been identified, with different types of mutations leading to varying degrees of clinical manifestations.
2. Symptoms of G6PD Deficiency
The symptoms and progression of the disease vary depending on the severity of G6PD enzyme deficiency in each individual and their exposure to oxidizing agents (medications, foods, infections, chemicals, etc.). Many individuals with G6PD deficiency are completely asymptomatic. Common signs include:
Intermittent jaundice: In newborns, this jaundice may appear early within the first 24 hours of life, or progress to severe, prolonged jaundice.
Pale skin.
Lethargy, poor feeding, or refusal to feed.
Dark-colored urine resembling strong tea.
Older children and adults may experience fatigue, headaches, rapid breathing, shortness of breath, back pain, or abdominal pain.
3. Diagnostic Testing for G6PD Deficiency
Newborn Screening (Heel Prick Test)
This test evaluates the risk of G6PD deficiency and other congenital abnormalities (congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, etc.) and is routinely performed on all newborns within 36 to 48 hours after birth. Results are directly discussed with parents by the physician if any abnormalities are detected.
Quantitative G6PD Blood Test
This test uses a venous blood sample. It helps accurately diagnose whether a child has G6PD deficiency and is ordered by physicians when suggestive factors are present (a family history of G6PD deficiency, unexplained hemolytic anemia, suspected hemolysis after food or drug intake, etc.) or when newborn screening results are abnormal.
Test results may also be affected if the child's health status is unstable at the time or due to concurrent medical conditions. In some cases, a retest may be requested after a few weeks.
Genetic Testing
This identifies the specific G6PD gene mutation (using oral mucosal samples, blood, etc.) in a child with G6PD deficiency.
4. How is G6PD Deficiency Treated?
There is currently no complete cure. However, children can still develop as healthily as other children if they receive proper care and monitoring.
Treatment depends on the severity of hemolysis and anemia. First and foremost, exposure to hemolytic triggers (suspected causative drugs or foods) must be discontinued.
Preventing hemolysis is the best measure to protect the child.
5. Caring for a Child with G6PD Deficiency
Ensure that family members and frequent caregivers (parents, grandparents, siblings, babysitters, etc.) as well as healthcare staff directly involved in the child's care and treatment are informed of the child's G6PD deficiency status.
Prevention of Hemolysis:
Avoid foods, medications, and chemicals recommended against for individuals with G6PD deficiency.
Maintain complete vaccination and good hygiene to reduce the risk of common infections.
Breastfeeding mothers must pay attention to the foods and medications they consume (specifically medications and foods that must be strictly avoided by G6PD-deficient individuals). Continue breastfeeding to provide the child with maternal nutrition and antibodies.
Do not use food products with unclear or mixed ingredients.
In cases where a breastfeeding mother has consumed medications or foods with a hemolytic risk, closely monitor the baby's condition within 24 to 72 hours afterward. If symptoms of hemolysis are observed (poor feeding, lethargy, paleness, worsening jaundice, dark urine), take the child to the hospital immediately.
The information above is for reference purposes only and is not intended as medical advice. Please contact your doctor for detailed medical consultation.