G6PD aures: A rare mutant of G6PD in Saudi Arabia. Molecular and clinical presentations

Background: In spite of the fact that G6PD deficiency is highly prevalent in Saudi Arabia, there has been very limited work at the molecular level, and as such, no new variant of G6PD has been described from this region. In this report we present the molecular characterization and clinical finding of G6PD Aures (nt 143C), detected in Saudis. This mutant was recently described in an Algerian and is reported to be associated with favism. Materials and methods: DNA analyses were performed on 20 randomly selected severely G6PD children aged 1-6 years (all diagnosed at birth) and in a 16 year old boy who at the age of 5 had history of passing dark urine after eating fava beans. Results: Seven out of 20 children (35%) with severe G6PD deficiency and the 16 year old boy had G6PD Aures (nt 143C) mutation. Twelve children were positive for G6PD Mediterranean (nt 563 T) and the mutation in one child remained unidentified. Review of medical records revealed that 6 out of 7 children (85%) with G6PD Aures had moderate to severe hyperbilirubinema. It was further observed that all the 7 Aures infants (including a premature) were jaudiced to birth. Two out of 7 newborns had generalized seizure, one out of these two developed kernicterus. Conclusion: G6PD Aures is the first example in Saudi Arabia. The clinical presentation of our Saudi cases with G6PD Aures apart from corroborating a previous description that this variant is associated with favism, also suggests its association with hyperbilirubinemia in the neonatal period but requires further evaluation. A case is made for the study of G6PD variants at molecular level especially in the Middle Eastern population where this enzymopathy exists in high frequency.