Glucose-6-Phosphate Dehydrogenase Deficiency: Clinical Presentation and the Relation between Gender and the Severity of the Disease at Benghazi Children's Hospital

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme disorder that can cause acute haemolytic anaemia following exposure to oxidative stressors. Clinical manifestations vary depending on enzyme activity and exposure to precipitating factors. This study aims to identify the most common clinical manifestations and precipitating factors of G6PD deficiency and investigate the relationship between gender and disease severity. A prospective study was conducted among 51 children aged nine years or younger attending the Haematology Clinic at Benghazi Children’s Hospital between January 2019 and December 2021. G6PD deficiency was confirmed using a quantitative screening test. Clinical manifestations, precipitating factors, haemoglobin, bilirubin, and G6PD enzyme levels were assessed. Disease severity was evaluated according to haemoglobin levels, and associations with gender were analysed statistically. Of the 51 children, 44 (86.3%) were males, and seven (13.7%) were females, with a male-to-female ratio of 6.3:1. The majority of children (56.9%) experienced their first attack between two and four years of age. A positive family history was reported in 43.1%. The most common clinical manifestations were jaundice (90.2%), dark urine (80.4%), and pallor (78.4%). Fava bean consumption was the leading precipitating factor (76.5%), followed by infection (27.4%). All patients were anaemic, with 76.5% having severe anaemia (haemoglobin <7 g/dL). Elevated bilirubin levels were observed in 92.2% of patients. Most patients were classified as Class III (62.7%), followed by Class II (25.5%) and Class I (11.8%). No statistically significant associations were found between gender and haemoglobin levels (p=0.282), bilirubin levels (p=0.670), G6PD enzyme levels (p=0.446), or time to symptom onset (p=0.150). In conclusion, G6PD deficiency predominantly affected males in this study, with fava bean consumption being the most common precipitating factor. Although severe anaemia and jaundice were frequent, no statistically significant relationship was observed between gender and the measured indicators of disease severity. These findings highlight the importance of early diagnosis, family education, and avoidance of recognised oxidative triggers.