Glucose-6-phosphate dehydrogenase deficiency
G6PD deficiency has variable phenotypes attributed to the severity of the enzyme deficiency. G6PD is classified into 5 variations correlating to the amount of enzyme activity. Affected neonates may present with hyperbilirubinemia and hemolytic anemia, but many patients are asymptomatic. Some patients will have a chronic anemia from ongoing hemolysis, while others will be asymptomatic until a trigger, often environmental (ie, food or medication) or infectious, incites a hemolytic episode.
Signs and symptoms include pallor, dark urine, dyspnea, tachycardia, jaundice, and fatigue. Severe anemic hemolysis may occur in patients who have been exposed to bacterial or viral infections, the antimalarial drug primaquine, some antibiotics, or fava beans.
Management focuses on minimizing exposure to potential triggers that can incite hemolytic events and supportive management during anemic episodes.
For more information, see OMIM.
D55.0 – Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency
124134002 – Deficiency of glucose-6-phosphate dehydrogenase
- Sickle cell disease
- Alpha / beta thalassemia
- Hereditary spherocytosis
- Pyruvate kinase deficiency
- Hemolytic disease of the fetus and newborn
- Cholestasis of sepsis
- Hemolytic disease secondary to infection – often tick-borne illnesses, pneumonia, or hepatitis
- Biliary atresia
- ABO incompatibility / transfusion reaction
- Disseminated intravascular coagulation
- Systemic lupus erythematosus
- Thrombotic thrombocytopenic purpura
- Myelodysplastic syndromes
- Acute blood loss anemia