Management and Treatment of G6PD Deficiency in Children
The management of G6PD deficiency in children primarily involves preventing hemolytic crises by avoiding known triggers, monitoring for signs of hemolysis, and providing supportive care when hemolysis occurs. 1, 2
Understanding G6PD Deficiency
- G6PD deficiency is the most common enzymatic disorder of red blood cells worldwide, affecting approximately 400 million people 3
- The severity varies based on genetic variant, with the Mediterranean variant (Gdmed) typically causing more severe reactions than the African variant (GdA-) 4, 1
- The condition is most prevalent in Africa, southern Europe, the Middle East, Southeast Asia, and Pacific islands, but has now become a worldwide disease 3
Prevention of Hemolytic Crises
Medications to Avoid
- Seven medications are definitively contraindicated in G6PD deficiency: 5, 1
- Dapsone
- Methylthioninium chloride (methylene blue)
- Primaquine
- Rasburicase
- Nitrofurantoin
- Phenazopyridine
- Certain "pain killers"
Dietary Triggers to Avoid
- Fava beans are the most common dietary trigger of hemolysis (32.6% of cases) 2
- Other legumes that may trigger hemolysis include: 2
- Falafel (19.4%)
- Chickpeas (10.8%)
- Broad beans (7.6%)
- Green peas (4.4%)
- Peanuts (3.8%)
- Lentils (2.8%)
- Black-eyed peas (2%)
Other Triggers
- Infections can trigger hemolysis (12.4% of cases), including pneumonia, tonsillitis, typhoid fever, hepatitis A, and urinary tract infections 2
- Traditional medicines containing plants like Acalypha indica should be avoided 6
Screening and Diagnosis
- Screening is strongly recommended for patients with predisposing racial or ethnic backgrounds (Mediterranean, African, Indian, or Southeast Asian descent) 4, 1
- Qualitative screening is sufficient for initial assessment, but quantitative testing may be needed to determine the degree of deficiency 1
- G6PD levels may be falsely elevated during acute hemolysis, so repeat testing after 3 months may be necessary for accurate diagnosis 7
Management of Acute Hemolytic Crisis
Clinical Presentation
- Acute hemolysis typically presents with: 2, 6
- Pallor (100% of cases)
- Dark red urine (89.6%)
- Jaundice (87.8%)
- Symptoms usually appear 24-72 hours after exposure to triggers
Treatment Approach
- For severe hemolytic anemia (hemoglobin <6 g/dL), hospitalization and blood transfusion may be required 6
- For neonatal jaundice related to G6PD deficiency: 7, 8
- Phototherapy is the primary treatment
- Intervention at lower total serum bilirubin levels is recommended for G6PD-deficient infants
- Exchange transfusion may be necessary in severe cases, though it carries risks
Monitoring
- Monitor for signs of hemolysis when starting any new medication, including: 5
- Jaundice
- Dark urine
- Fatigue
- Pallor
Patient and Family Education
- Educate patients and families about: 3
- The nature of G6PD deficiency
- Medications, foods, and other triggers to avoid
- Signs and symptoms of hemolytic crisis
- When to seek medical attention
Special Considerations
- The highest prevalence of hemolytic crises occurs in children aged 1-3 years (92% of cases) 2
- Males are more commonly affected than females due to X-linked inheritance pattern 2
- A recent real-world study found that many medications previously thought to be risky (including ciprofloxacin, sulfamethoxazole, hydroxychloroquine) were prescribed safely to G6PD-deficient patients 9