G6PD deficiency is a genetic disorder that affects the G6PD enzyme, crucial in the pentose phosphate pathway for maintaining cellular redox balance.
It is inherited in an X-linked recessive manner, primarily affecting males.
Cause of G6PD deficiency
Mutation in G6PD Gene: Leads to reduced or absent G6PD enzyme activity.
Inheritance: X-linked recessive; males are more severely affected, while females may be carriers.
Function of G6PD
Role in NADPH Production: G6PD is vital in producing NADPH during the oxidative phase of the pentose phosphate pathway.
NADPH Function: Maintains reduced glutathione levels, protecting red blood cells (RBCs) from oxidative stress.
Consequences of G6PD Deficiency
Reduced NADPH Production: Results in diminished antioxidant protection for RBCs, leading to increased oxidative damage.
Hemolytic Anemia: RBCs are prone to hemolysis, causing symptoms like jaundice, fatigue, rapid heart rate, and dark urine.
Triggers of Hemolytic Episodes
Infections: Increase oxidative stress.
Medications: Antimalarials (e.g., primaquine), sulfonamides, and nitrofurantoin can trigger hemolysis.
Fava Beans: Contain compounds that induce oxidative stress in RBCs.
Chemical Exposure: Certain chemicals can precipitate hemolysis.
Diagnosis and Management
Diagnosis: Blood tests (G6PD enzyme assay) and genetic testing confirm the deficiency.
Management: Avoidance of known triggers is the primary strategy. Severe anemia may require blood transfusions.
Severity and Variability
Symptoms: Vary depending on the specific mutation and residual G6PD enzyme activity.
G6PD deficiency highlights the interaction between genetics and environmental factors in maintaining health. Awareness and trigger avoidance are key to managing the condition.
