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 preval ent 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 th is region. In this report we present the molecular characterization an d clinical finding of G6PD Aures (nt 143C), detected in Saudis. This m utant was recently described in an Algerian and is reported to be asso ciated with favism. Materials and methods: DNA analyses were performed on 20 randomly selected severely G6PD children aged 1-6 years (all di agnosed at birth) and in a 16 year old boy who at the age of 5 had his tory 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 f or G6PD Mediterranean (nt 563 T) and the mutation in one child remaine d unidentified. Review of medical records revealed that 6 out of 7 chi ldren (85%) with G6PD Aures had moderate to severe hyperbilirubinema. It was further observed that all the 7 Aures infants (including a prem ature) were jaudiced to birth. Two out of 7 newborns had generalized s eizure, one out of these two developed kernicterus. Conclusion: G6PD A ures is the first example in Saudi Arabia. The clinical presentation o f 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 re quires further evaluation. A case is made for the study of G6PD varian ts at molecular level especially in the Middle Eastern population wher e this enzymopathy exists in high frequency.