Retrospective evaluation of cases with glucose-6-phosphate dehydrogenase deficiency

INTRODUCTION AND OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies in the world. Our aim is to evaluate the demographic features, clinical and laboratory findings of children with G6PD deficiency followed up in our clinic. PATIENTS AND METHODS: Children diagnosed with G6PD deficiency, followed up by Sakarya University Faculty of Medicine Department of Pediatric Hematology-Oncology, were retrospectively analyzed. The patients' presenting complaints, medical histories, physical examination and laboratory findings, and treatment courses were evaluated. RESULTS: 43 children (86% boys, 14% girls) aged 0-18 years were included in the study. 69.8% of the cases were diagnosed as acute hemolytic anemia (67.4% favism), 16.3% as neonatal hyperbilirubinemia, and 14% as asymptomatic. The most common complaints at admission were jaundice (86%), dark urine color (62.8%) and abdominal pain (58.2%), while the most common physical examination findings were icterus (86%), tachycardia (44.2%), and pallor (39.5%). At the time of admission patients with acute hemolytic anemia had severe normocytic normochromic anemia, and increased levels of LDH and indirect bilirubin. 80% of these cases were hospitalized and 95.8% of the hospitalized patients were given erythrocyte suspension. 28.6% of patients who applied with early or prolonged neonatal hyperbilirubinemia were treated with phototherapy. There was no clinical finding in asymptomatic cases, except for mild anemia in 33%. The mean G6PD values of the patients with acute hemolytic anemia during the attack were higher both the other clinical groups and the non-attack (at least 1 month later) values. In this group, the mean G6PD values of the boys were lower than of the girls. CONCLUSION: Although G6PD deficiency is thought to be a male disease due to X-linked genetic inheritance pattern, 14% of our cases were female. Most of the cases are children with acute hemolytic anemia due to favism, and 80% of them required hospitalization and mostly blood transfusion. Key words: Glucose-6-phosphate dehydrogenase, favism, hemolysis, jaundice