G6PD Deficiency
X-Linked Red Blood Cell Enzymopathy
Primary risk age: All ages (Inherited; typically triggered in infancy or childhood)
- Urgency
- Moderate
- Typical age
- All ages (Inherited; typically triggered in infancy or childhood)
- Body system
- Hematological System
Typical course: Hemolytic crisis resolves within 1 to 2 weeks once the triggering agent is removed.
Reviewed against AAP · CDC · WHO · NHS guidance Last reviewed 2026-06-13
1. Summary & Pathophysiology
X-Linked Red Blood Cell Enzymopathy
Pathophysiology (Development Path)
G6PD deficiency impairs the generation of NADPH, which is required to maintain glutathione in its reduced state. When cells are exposed to oxidative triggers, hemoglobin is oxidized and precipitates as Heinz bodies. The spleen removes these damaged cells, causing acute intravascular and extravascular hemolysis.
Primary Causes & Etiology
Genetic X-linked recessive mutation in the glucose-6-phosphate dehydrogenase (G6PD) gene, reducing red blood cell protection against oxidative stress.
2. Symptom Continuum
- Early Onset Signs
Often asymptomatic until triggered. Early signs of a hemolytic flare include fatigue, sudden pallor, and dark tea-colored urine.
- Progressive Phase
Jaundice of the skin and conjunctiva (yellow eyes), low-grade fever, and acute abdominal or lower back pain.
- Severe Indicators
Severe acute anemia, tachycardia, dyspnea, splenomegaly, and potential acute kidney injury due to hemoglobinuria.
3. Clinical Verification
Quantitative G6PD enzyme assay (performed outside acute hemolytic windows). Peripheral blood smear demonstrating Heinz bodies, "bite cells", and "blister cells".
4. Care & Elements Plan
Primary Care Treatment Plan
Strict avoidance of oxidative triggers. Hydration to protect kidneys during hemolysis. Red blood cell transfusion if anemia is life-threatening.
Home Support Elements
Provide caretakers with a strict list of forbidden substances. Check ingredients of all foods, over-the-counter medications, and herbal supplements.
Generic Active Ingredients (No Brands)
- Intravenous hydration (supportive renal perfusion active element)
- Red blood cell transfusion elements (for emergency anemia support).
Lists active elements only. Never administer self-designed therapies.
5. Doctor Critical Lines
Critical Thresholds: When to See a Doctor
Seek emergency care immediately if a child with G6PD deficiency develops sudden severe pale skin, dark yellow/orange skin, tea-colored urine, or fast breathing.
6. Vaccine & Prevention
Routine Prophylaxis (Prevention)
Strict avoidance of fava beans (favism), naphthalene (mothballs), aspirin, sulfonamide antibiotics, antimalarial drugs, and nitrofurantoin.
Immunization Context
Ensure routine immunizations, as infections are the most common triggers for G6PD hemolytic episodes.
7. Timelines & Outlook
Active Timeline
Hemolytic crisis resolves within 1 to 2 weeks once the triggering agent is removed.
Expected Prognosis
Excellent with strict trigger avoidance; life expectancy and quality of life are completely normal.
Potential Untreated Complications
Severe hemolytic anemia, acute renal failure (tubular necrosis), neonatal kernicterus if jaundice is untreated.
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