G۶PD Deficiency in Iran: Clinical and Public Health Perspectives

Glucose-۶-phosphate dehydrogenase (G۶PD) deficiency is the most common enzymatic disorder of red blood cells worldwide, affecting an estimated ۴۰۰ million individuals. Favism, the acute hemolytic crisis triggered by ingestion of fava beans, represents one of the most characteristic clinical manifestations of this disorder. In Iran, where G۶PD deficiency is relatively prevalent particularly in the northern and southern provinces-favism continues to pose a significant pediatric health concern. The underlying pathophysiology of favism relates to the inability of G۶PD-deficient erythrocytes to generate sufficient NADPH through the pentose phosphate pathway. As a result, affected red cells cannot adequately counter oxidative stress, leading to intravascular hemolysis following exposure to oxidative agents such as fava beans, certain drugs, or infections. In children, the presentation is often dramatic: sudden onset of pallor, jaundice, hemoglobinuria, abdominal pain, and occasionally acute renal impairment. Diagnosis relies on clinical suspicion supported by laboratory evidence of hemolysis-anemia, reticulocytosis, elevated indirect bilirubin, and LDH. Specific enzyme assays confirm G۶PD deficiency, though their sensitivity may be limited during acute hemolysis due to the predominance of young red cells with near-normal enzyme activity. Molecular analysis has identified multiple G۶PD variants in the Iranian population, contributing to variable clinical severity. Management of favism is primarily supportive. Acute crises require prompt hydration, avoidance of further oxidative triggers, and, in severe cases, blood transfusion. In neonates, G۶PD deficiency is a well- recognized risk factor for severe hyperbilirubinemia and kernicterus, necessitating vigilant screening and early intervention with phototherapy or exchange transfusion. Long-term care focuses on education of families regarding avoidance of fava beans and contraindicated drugs, alongside genetic counseling. From a public health perspective, neonatal screening for G۶PD deficiency has been implemented in several regions of Iran and has proven effective in reducing morbidity and mortality. However, variability in program coverage and family awareness remains a challenge. Future directions include wider application of molecular diagnostics, improved educational strategies for families, and exploration of curative approaches such as gene therapy. In conclusion, favism in Iran exemplifies the clinical importance of G۶PD deficiency in pediatric practice. Through early detection, appropriate management, and preventive education, the burden of this inherited disorder can be substantially reduced.