[Glucose-6-phosphate dehydrogenase deficiency in children: a case report]

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent red blood cell enzyme disorder globally.
• Reduced G6PD activity elevates red blood cell susceptibility to oxidative stress, triggered by factors like fava beans or certain medications.
• Clinical manifestations range from acute hemolysis and chronic hemolysis to neonatal hyperbilirubinemia and asymptomatic cases.

Observation:

• A 2-year-old boy experienced a severe hemolytic crisis following fava bean consumption.
• The child had a history of unexplained neonatal jaundice and required red blood cell transfusion due to anemia.
• No family history of hemolytic anemia or parental consanguinity was reported.

Findings:

• Qualitative G6PD testing confirmed enzyme deficiency in the patient.
• The clinical presentation, triggered by favism, led to acute hemolytic anemia.
• The case underscores the diagnostic challenge posed by G6PD deficiency's variable clinical spectrum.

Implications:

• G6PD deficiency diagnosis is crucial for managing hemolytic anemia across all age groups.
• Awareness of G6PD deficiency's diverse presentations is essential for timely and accurate diagnosis.
• Prompt identification and avoidance of triggers like fava beans can prevent severe hemolytic episodes.