Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Series

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect and has a wide variety of clinical manifestations. The highest frequencies are seen in Africa, Asia and Mediterranean region, but with world globalization it`s becoming prevalent worldwide.

Objective: Characterization of a pediatric G6PDH deficient cohort followed in a suburban area of an European capital.

Methods: Retrospective study of children with G6PD deficiency in a Pediatric Hematology consultation (2013 to 2018). Record data: demographic, clinical and laboratory information.

Results: 34 children were included, most of them male (82%) and with African ancestry (74%). The median age at diagnosis was 1.1 years (IQR 28days-7.8years). Diagnosis was made after: acute hemolytic anemia episode (n=13;38%), neonatal hyperbilirubinemia (n=10;29%), family screening (n=6;18%), neonatal anemia (n=3;9%) or investigation of anemia (n=2;6%). Median enzymatic activity was 1.3U/gHb (range 0.3-4.8U/gHb; reference >5U/gHb) and there was no difference between gender. Concomitantly, 3 patients had alpha-thalassemia, 2 sickle-cell disease and 2 hemoglobin Hope.

76% had neonatal hyperbilirubinemia, 75% of these with phototherapy criterion and 1 needed exchange-transfusion; 35% had neonatal anemia and 41% had at least one episode of acute hemolytic anemia, 50% trigged by ingestion of fava beans and 43% by infection. At the acute hemolytic episode, mean minimum hemoglobin was 6.4±2.7g/dL and 50% needed blood transfusion.

All children were followed in hematology pediatric consultation: one has chronic hemolytic anemia and only one (with sickle-cell disease) had another episode of acute hemolysis, trigged by infection and immune process Mutation test was performed in a minority (n=6;18%).

Conclusion:
In this study, neonatal period and infection were important triggers of hemolysis and high prevalence of females was found. We should keep in mind the possibility of concomitance of different causes of hemolysis and that early diagnosis is crucial to prevent future episodes of acute hemolysis and consequent morbidity.