Paediatric G6PD Deficiency
Lesson Objectives
By the end of this lesson, learners should be able to:
-
Describe the genetic basis of G6PD deficiency.
-
Recognize triggers of haemolysis in affected children.
-
Identify clinical features during haemolytic episodes.
-
Outline investigations for diagnosis and assessment of severity.
-
Describe supportive and pharmacological management strategies.
-
Advise on prevention and follow-up care.
Description
G6PD deficiency is an inherited X-linked recessive disorder. The enzyme G6PD protects red blood cells from oxidative damage. Deficiency usually remains asymptomatic but can lead to haemolysis when the child is exposed to oxidative stress from infections, certain drugs, or foods such as sulphonamides, chloroquine, proguanil, and fava beans.
Clinical Features
| Feature | Description |
|---|---|
| Pallor | Sudden onset during haemolytic episode |
| Jaundice | Yellowing of eyes and skin |
| Dark Urine | Cola-coloured urine due to haemoglobinuria |
| Other Signs | Fatigue, lethargy, tachycardia, or mild splenomegaly in some cases |
Investigations
| Investigation | Purpose / Findings |
|---|---|
| FBC and Reticulocyte Count | Anaemia, reticulocytosis |
| Peripheral Smear | Normocytic normochromic cells, spherocytes, bite cells, Heinz bodies |
| Ham’s Test | Positive in acute haemolysis |
| Serum LDH | Elevated due to red cell destruction |
| Serum Haptoglobin | Decreased indicating intravascular haemolysis |
| Serum Bilirubin | Elevated direct and indirect bilirubin |
| Urinalysis | Hematuria |
| G6PD Enzyme Activity Assay | Confirms deficiency |
Supportive Management
| Step | Action |
|---|---|
| Trigger Avoidance | Avoid oxidative drugs, certain foods, and infections |
| Hydration | Maintain adequate fluid intake to reduce risk of acute kidney injury |
| Monitoring | Monitor hemoglobin, vital signs, urine output, and overall clinical status |
| Blood Transfusion | Indicated in severe anaemia: 10 mL/kg packed RBCs over 8 hours |
Pharmacological Management
| Drug / Therapy | Dosage / Administration | Notes |
|---|---|---|
| Folic Acid | 5 mg orally once daily for 1 month | Supports erythropoiesis and recovery |
Summary
-
G6PD deficiency is X-linked and usually asymptomatic until triggered.
-
Triggers include certain infections, drugs, and foods.
-
Haemolysis presents with pallor, jaundice, and dark urine.
-
Investigations confirm anaemia and enzyme deficiency.
-
Management is primarily supportive: avoid triggers, maintain hydration, and transfuse when necessary.
-
Folic acid supplementation aids red blood cell recovery.