Glucose-6-phosphate dehydrogenase (G6PD) is an important enzyme that helps protect red blood cells from damage. A deficiency in this enzyme, known as G6PD deficiency, can lead to hemolytic anemia, a condition where red blood cells break down faster than they can be replaced.
G6PD deficiency symptoms vary from person to person, with some experiencing mild reactions while others face severe complications. A G6PD deficiency test is essential for individuals at risk, particularly those with a family history of the disorder or belonging to certain ethnic groups.
What Is G6PD Deficiency?
G6PD deficiency is a genetic disorder caused by a mutation in the G6PD gene. This enzyme plays a crucial role in protecting red blood cells from oxidative damage. Without enough glucose-6-phosphate dehydrogenase, red blood cells become more vulnerable to destruction, leading to hemolytic anemia.
This condition is more common in males due to its X-linked inheritance pattern. Women can be carriers and may have mild symptoms, but men with the defective gene usually experience more severe effects.
G6PD Deficiency Symptoms
The symptoms of G6PD deficiency often appear when red blood cells are exposed to triggers such as certain foods, infections, or medications. Some individuals may remain asymptomatic, while others develop acute hemolytic anemia.
Common Symptoms of G6PD Deficiency
- Fatigue and Weakness- Due to reduced oxygen supply from damaged red blood cells.
- Jaundice- Yellowing of the skin and eyes caused by excess bilirubin from broken-down red blood cells.
- Dark-Colored Urine- A sign of hemoglobin breakdown.
- Rapid Heartbeat (Tachycardia)- The heart pumps faster to compensate for the lack of oxygen.
- Shortness of Breath- Caused by low red blood cell count and reduced oxygen delivery.
- Dizziness or Lightheadedness- Due to decreased circulation and oxygen transport.
- Enlarged Spleen- The spleen works harder to filter out damaged red blood cells, leading to swelling.
In newborns, G6PD deficiency can cause neonatal jaundice, which may require phototherapy or other medical intervention.
G6PD Deficiency Causes and Triggers
While G6PD deficiency is an inherited condition, certain triggers can worsen symptoms by causing red blood cells to break down rapidly.
- Certain Medications
Some medications can trigger hemolysis in people with G6PD deficiency, including:
- Antibiotics (sulfonamides, nitrofurantoin)
- Antimalarial drugs (primaquine, chloroquine)
- Pain relievers (aspirin in high doses)
- Infections- Bacterial and viral infections can increase oxidative stress, triggering hemolytic anemia in G6PD-deficient individuals.
- Certain Foods- Fava Beans is a well-known trigger that can cause "favism," a severe hemolytic reaction. Legumes and certain dyes may also contribute to oxidative stress.
- Chemicals and Toxins- Naphthalene (found in mothballs) can trigger hemolysis.
Understanding G6PD deficiency causes can help individuals avoid these triggers and manage symptoms effectively.
Who Is at Risk for G6PD Deficiency?
Certain populations are more likely to inherit G6PD deficiency due to genetic factors.
- Ethnic and Geographic Risk Factors
G6PD deficiency is most common in:
- African, Mediterranean, Middle Eastern, and South Asian populations
- Areas where malaria is prevalent, as the deficiency provides some protection against severe malaria infections.
- Family History- If a close relative has G6PD deficiency, there is a higher chance of inheriting the condition.
- Male Gender- Since G6PD deficiency is linked to the X chromosome, males (who have only one X chromosome) are more likely to have severe symptoms.
- Newborns and Infants- Babies, especially males, may develop neonatal jaundice if they have G6PD deficiency.
G6PD Deficiency Test: When Should You Get Tested?
A G6PD deficiency test is recommended for individuals with:
- A family history of G6PD deficiency
- Unexplained jaundice or anemia
- Newborn jaundice that doesn’t resolve quickly
- Reactions to certain medications or foods
G6PD Deficiency Test Procedure
A G6PD deficiency test is a simple blood test that measures glucose-6-phosphate dehydrogenase activity. A healthcare professional collects a small blood sample from a vein. The sample is analyzed to determine G6PD enzyme activity. Results are typically available within a few days.
Test Results Interpretation
- Normal G6PD Levels – Indicate sufficient enzyme activity.
- Low G6PD Levels – Confirm G6PD deficiency, suggesting a higher risk of hemolytic anemia.
Managing G6PD Deficiency
Since G6PD deficiency has no cure, management focuses on avoiding triggers and maintaining a healthy lifestyle.
- Avoid Trigger Foods and Medications- Avoid fava beans and certain legumes. Consult a doctor before taking antibiotics or pain relievers.
- Regular Health Monitoring- Individuals with G6PD deficiency should have routine blood tests to monitor hemoglobin and red blood cell levels.
- Treating Hemolytic Episodes- In severe cases, blood transfusions may be needed to manage hemolytic anemia.
- Neonatal Care- Newborns with jaundice may require phototherapy to prevent complications.
When to See a Doctor?
Seek medical attention if you experience:
- Severe fatigue and dizziness
- Dark-colored urine and jaundice
- Persistent infections
- Rapid heart rate or shortness of breath
A G6PD deficiency test can confirm whether symptoms are related to this condition and guide appropriate management.
G6PD deficiency is a common genetic disorder affecting red blood cell health. While many individuals remain symptom-free, exposure to certain foods, medications, and infections can trigger hemolytic anemia.
Understanding G6PD deficiency symptoms, causes, and risk factors can help individuals make informed health choices. If you or a loved one may be at risk, consider getting a G6PD deficiency test to ensure proper management and prevention of complications.
