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Abstract Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. It is an X-linked, hereditary genetic defect due to mutations in the G6PD gene The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress and screening. The aim of this work: To determine the incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the neonates in Beni Suef governorate,To compare the incidence of G6PD deficiency in neonate with jaundice with neonates without jaundice. subjects and methods: The study included 80 neonates from (1st to 7th day of birth), divided into two groups: Group (A): 50 neonates not presented with jaundice 35 males and 15 females and group (B) 30 neonates presented with jaundice (indirect hyperbilirubinaemia) 27 males and 3 females from from neonatology department at Beni Suef university hospital and Beni Suef general hospital screening for G6PD deficiency was done by quantitative tests. Results: The prevalence of G6PD deficient neonates were 3 (6%) males and 1 (2%) female in group (A) and 11 (36.7%) males in group (B), there is high significant (P-value 0.002) in G6PD deficient neonates in group (A) compared to group (B). Group (A): 50 neonates (35 (70%) male and 15 (30%) females), mean patient age was 5±1.5 days , mean patient weight was 2.6±0.7, parental consanguinity was found positive in 14(28%) neonates, no family history of G6PD deficiency, family history of jaundice was positive in 12 (24%) neonates and Group (B): 30 neonates 27(90%) males and 3 (10%) females), mean patient age was4.4±1.5 days , mean patient weight was 2.6±0.8, Parental consanguinity was found positive in 7 (23.3%) neonates, family history of G6PD deficiency was positive in 2(6.7%) neonates, and 28 (93.3%) received phototherapy and family history of jaundice was positive in 10(33.3%) neonates. Conclusions: Screening for G6PD deficiency is recommended in any neonate presented with jaundice, regardless of sex, not only to detect etiology of hyperbilirubinemia,but also to prevent kernicterus and further hemolytic episodes. Key words: G6PD deficiency, neonatal jaundice, hemolysis and neonatal screening. |