Glucose 6 phosphate dehydrogenase deficiency: A single-center experience

Özet

Objective: This study aims to evaluate the demographic information, clinical and laboratoryfindings of patients with glucose 6 phosphate dehydrogenase deficiency.Material and Methods: We collected data by reviewing files and electronic records of 65 patients with glucose 6 phosphate dehydrogenase deficiency under the age of 18 years who werefollowed up in our clinic between 2007 and 2019. Demographic, clinical, and laboratory features, family history, complications of the disease, and history of splenectomy and cholecystectomy were evaluated. Mean, standard deviation, and median values were used when descriptive analyses were presented.Results: The age of diagnosis ranged between 1-192 months and the median age of diagnosiswas two months. Fifty-nine patients (90.7%) were boys and six (9.2%) were girls. The mean value of glucose 6 phosphate dehydrogenase enzyme on admission was 1,9±1,4 U/g of hemoglobin(Hb). Family history was pesent in 40% of patients in whom information was avaliable. The mostcommon presentation was prolonged jaundice and the most common physical finding wasjaundice. Splenomegaly was detected in none of the patients. Cholelithiasis was present in oneof 21 patients who were evaluated with ultrasonography. None of the patients required splenectomy, cholecystectomy, and regular erythrocyte transfusion during follow-up.Conclusion: As G6PD variants with chronic hemolysis are not usually seen in Turkey, patientswho required splenectomy, cholecystectomy, and regular erythrocyte transfusion were not detected. Although glucose 6 phosphate dehydrogenase deficiency is more common in males, itcan also be seen in girls. In Turkey, glucose 6 phosphate dehydrogenase deficiency should beconsidered in patients presenting with prolonged jaundice.