83 G6PD MEDITERRANEAN MUTATION Screening for G6PD Mediterranean mutation among Egyptian neonates with high or prolonged jaundice Ahmad Settin, Mohammad Al-Haggar, Rizk Al-Baz 1 , Hisham Yousof 1 , Nayera Osman 1 Paediatrics Department, Faculty of Medicine, Mansoura University, 1 Laboratories of Genetics Unit of Mansoura University Childrens Hospital, Mansoura, Egypt Abstract. Our objective is to determine the frequency of G6PD Mediterranean mutation (Med mut) among neonates with high or prolonged jaundice in Dakahlia province, Egypt. Seventy neonates and infants with definite history of jaundice were enrolled from Neonatal Care Unit in Mansoura University Childrens Hospital; all were subjected to clinical history, laboratory investigations e.g. bilirubin, SGPT, SGOT, Hb and CRP. G6PD assay was done by a qualitative screening test. For detection of G6PD Med mut at nucleotide 563 C-T, DNA was extracted and amplified using the primers published in the literature and applying a specific amplification program. The amplified PCR products were digested and separated by agarose gel electrophoresis; then bands were visualized. Five cases of G6PD deficiency were detected by screening test and 3 cases in addition were found having G6PD Med mut, so the minimum frequency of G6PD deficiency among jaundiced Egyptian neonates is 8/70 (11.4%) which is higher than population prevalence in Egypt (7-9.9%), and relatively higher than some countries like Iran (7.5%) but lower than Greece, Turkey and Jamaica. Interesting- ly, the five qualitatively G6PD deficient cases had no G6PD Med mut, on the other hand the three cases having G6PD Med mut were negative by qualitative screening test. We can conclude that the frequency of G6PD deficiency among jaundiced neonates in Egypt was higher than population prev- alence. False negative rate for qualitative test was 4.6%. Absence of G6PD Med mut in the 5 cases diagnosed by qualitative screening test should signify the existence of other mutations. Key words: neonatal screening  G6PD deficiency  Mediterranean mutation * Correspondence: Mohammad Al-Haggar, MD, Department of Paediatrics, Faculty of Medicine, Man- soura University, Mansoura, Egypt, Postal Address: P.O. 732 Al-Khobar 31952, Saudi Arabia, Tel.:+96638.982022, 96638.982831, e-mail: mhajjar2000@yahoo.co.uk Copyright © Hellenic Society of Haematology HAEMA (Áßìá) ÉSSN: 1108-2682 www.mednet.gr/eae/haema Haema 2006; 9(1): 83-90 Original article Received: May 26, 2005; Accepted: June 4, 2005 INTRODUCTION Glucose-6-phosphate dehydrogenase (G6PD) defi- ciency was discovered by Alving et al. when they investi- gated the unusual haemolytic reaction that occurred in Blacks individuals following administration of pri- maquine, 1 a finding observed latter in other ethnic groups as well. By the 1960s, four syndromes were explained by an inherited G6PD deficient genotype; massive intravas- cular haemolysis as an idiosyncratic reaction to multiple drugs and chemicals, haemolysis after ingestion of fava bean (favism), severe haemolysis as an unusual complica- tion of illnesses and severe neonatal jaundice causing ker- nicterus. 2-4 G6PD catalyzes the entry step of G6P into pentose phosphate shunt (PPS), first described by Warburg and