G6PD Deficiency: Causes, Signs & Symptoms, Prevention and Treatment
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency is one of the most common enzyme disorders in the world, affecting millions of people — particularly males. Although many people with G6PD deficiency live normal, healthy lives, exposure to certain foods, infections, and medications can trigger episodes of hemolysis (rapid breakdown of red blood cells). Because of this, awareness is crucial.
This detailed article explains everything you need to know about G6PD deficiency: what causes it, its symptoms, how it is diagnosed, and most importantly, how it can be prevented and treated.
What Is G6PD Deficiency?
G6PD deficiency is an inherited genetic disorder in which the red blood cells lack a sufficient amount of the enzyme Glucose-6-Phosphate Dehydrogenase. This enzyme plays a key role in protecting red blood cells from oxidative damage.
When the body is exposed to certain triggers, oxidative stress increases, leading to the destruction of red blood cells (hemolysis).
Key Facts
It is X-linked recessive, meaning it is more common in males.
It is especially common in people of African, Middle Eastern, Indian, Mediterranean, and Southeast Asian descent.
Most people with G6PD deficiency have no symptoms until exposed to triggers.
Causes of G6PD Deficiency
The primary cause of G6PD deficiency is a genetic mutation in the G6PD gene located on the X chromosome. However, the symptoms only appear when red blood cells are exposed to oxidative stress.
1. Genetic Inheritance
G6PD deficiency is passed from parents to children.
Males (XY) are more likely to show symptoms because they have only one X chromosome.
Females (XX) may be carriers or show mild to moderate symptoms depending on whether one or both X chromosomes carry the mutation.
2. Triggering Factors
Although the cause is genetic, triggers lead to hemolytic episodes.
These include:
a) Certain Medications
Some drugs increase oxidative stress and should be avoided:
Anti-malarials (e.g., Primaquine)
Sulfa drugs (Sulfonamides)
Certain antibiotics (Nitrofurantoin, Ciprofloxacin)
Aspirin (high doses)
Quinolones
b) Foods
Some foods are unsafe in G6PD deficiency, especially:
Fava beans (broad beans)
This condition is also known as favism because fava beans can trigger severe hemolysis.
c) Infections
Infections increase oxidative stress and are one of the most common triggers for hemolysis in children.
d) Chemicals
Exposure to certain chemicals such as naphthalene balls (mothballs) can cause hemolytic episodes.
Signs and Symptoms of G6PD Deficiency
Most individuals do not show symptoms unless exposed to triggers. When hemolysis occurs, symptoms can range from mild to severe.
1. Acute Hemolytic Anemia
This is the most common complication.
Symptoms include:
Sudden fatigue and weakness
Pale or yellow skin (jaundice)
Rapid heartbeat (tachycardia)
Dark-colored urine (cola or tea colored)
Shortness of breath
Dizziness
Enlarged spleen
Headache
2. Neonatal Jaundice
Newborn babies with G6PD deficiency may develop:
Severe jaundice within a few days of birth
Poor feeding
Lethargy
If untreated, severe jaundice can lead to kernicterus (brain damage).
3. Chronic Hemolysis (rare)
Some individuals have chronic low-level hemolysis, causing:
Persistent anemia
Gallstones
Enlarged spleen
Though rare, it can occur in certain genetic variants.
Diagnosis of G6PD Deficiency
Doctors use clinical evaluation supported by lab tests to diagnose G6PD deficiency.
1. G6PD Enzyme Assay (Definitive Test)
A blood test measures the level of G6PD enzyme in red blood cells. Low levels confirm the diagnosis.
2. Complete Blood Count (CBC)
May show:
Low hemoglobin
Increased reticulocyte count
3. Peripheral Blood Smear
Shows evidence of red blood cell destruction.
4. Neonatal Screening
Many countries include G6PD testing in newborn screening programs, especially in high-prevalence regions.
Complications of G6PD Deficiency
If hemolysis is severe or untreated, complications can include:
Severe anemia
Kidney damage
Heart problems due to lack of oxygen
Brain damage in newborns
However, with proper care and trigger avoidance, these complications are rare.
Prevention of G6PD Deficiency
While the genetic cause cannot be prevented, hemolytic episodes can be prevented through lifestyle precautions.
1. Avoid Trigger Foods
Most importantly:
Avoid fava beans (broad beans) completely.
2. Avoid High-Risk Medicines
People diagnosed with G6PD deficiency should avoid:
Sulfa drugs
Anti-malarials like primaquine
Nitrofurantoin
Certain antibiotics
Aspirin (high doses)
Always inform doctors before taking any medication.
3. Prevent and Treat Infections Early
Because infections are a major trigger:
Maintain good hygiene
Vaccinate children
Treat infections promptly
4. Avoid Exposure to Chemicals
Do not use:
Naphthalene balls (mothballs)
Harsh chemical cleaners
5. Maintain a Healthy Diet
Eat foods rich in:
Iron
Folic acid
Vitamin B12
These support healthy blood formation.
6. Genetic Counselling
Families with history of G6PD deficiency may consider:
Pre-marital genetic testing
Prenatal counselling
This helps parents understand the risk of transmission.
Treatment of G6PD Deficiency
There is no permanent cure because it is a genetic condition. However, treatment focuses on managing symptoms and preventing complications.
1. Stop Exposure to Triggers
The first and most important step is removing the trigger (medication, food, or infection).
2. Hydration
Drinking adequate fluids helps the kidneys flush out hemolysis by-products.
3. Treat Infections
If an infection triggered hemolysis, prompt treatment is essential.
4. Folic Acid Supplements
Folic acid supports red blood cell production and is commonly prescribed.
5. Blood Transfusion (Severe Cases)
If hemoglobin levels drop dangerously low, a transfusion may be needed.
6. Phototherapy for Newborns
Used to treat neonatal jaundice.
7. Exchange Transfusion (Severe Neonatal Jaundice)
Rarely needed but lifesaving in extreme cases.
8. Regular Monitoring
Patients should undergo periodic blood tests to monitor hemoglobin levels.
Diet for People With G6PD Deficiency
Foods to Avoid
Fava beans
Tonic water (contains quinine)
Menthol
Artificial food colorants (certain dyes)
Soy products (in some sensitive individuals)
Safe Foods
All fruits and most vegetables
Milk and dairy products
Meat, fish, eggs
Whole grains
Iron-rich foods like spinach, beetroot
Living with G6PD Deficiency
Most individuals with G6PD deficiency live normal, healthy lives with proper precautions. Parents should educate children early about unsafe foods and medicines. Adults should inform healthcare providers before taking medications.
Medical bracelets or ID cards stating “G6PD Deficient” can be helpful in emergencies.
Frequently Asked Questions (FAQs)
1. Is G6PD deficiency dangerous?
It can be dangerous only when triggered by certain foods, medicines, or infections. With proper precautions, most people live healthy lives.
2. Can G6PD deficiency be cured?
No, it is a genetic condition, but symptoms can be managed effectively.
3. Is G6PD deficiency common in India?
Yes, it is relatively common in India, especially in certain ethnic groups and regions.
4. Can a person with G6PD deficiency take paracetamol?
Yes, paracetamol is generally safe.
Always consult a doctor before taking any medication.
5. Is it safe to get vaccinated if I have G6PD deficiency?
Yes. Vaccines are safe, and preventing infections is important.
6. Can G6PD deficiency affect pregnancy?
Pregnant women with G6PD deficiency usually have normal pregnancies, but should avoid trigger medications and monitor anemia.
7. Can newborn screening detect G6PD deficiency?
Yes, neonatal screening can detect the condition, allowing early precautions.
8. Can G6PD deficiency cause jaundice?
Yes, especially in newborns or during hemolytic episodes.
9. Can people with G6PD eat nuts or chocolates?
Yes, most nuts and chocolates are safe, unless contaminated or mixed with unsafe additives.
10. How can G6PD deficiency be managed long-term?
Avoid triggers
Maintain good health and hygiene
Follow medical advice
Get regular check-ups
Conclusion
G6PD deficiency is a common yet manageable genetic condition. Although it cannot be cured, understanding your triggers, making informed dietary and medication choices, and maintaining good overall health can prevent hemolytic episodes. Newborn screening, early diagnosis, and patient awareness are essential tools in managing the condition effectively.
With the right precautions, people with G6PD deficiency can lead long, healthy, and active lives.