Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Abu Dhabi District, United Arab Emirates

Purpose: To investigate the frequency of glucose-6-phosphate dehydrogenase (G6PD) variants and their associated enzyme deficiencies among different age groups of individuals in Abu Dhabi, United Arab Emirates (UAE).
Methods: A total of 15,995 patients (6302 UAE nationals and 9693 non-UAE nationals) who presented at Mafraq Hospital, Abu Dhabi, UAE between January 2006 and January 2009 were screened for G6PD deficiency using fluorescent spot test. Molecular analysis including polymerase chain reaction– restriction fragment length polymorphism (PCR-RFLP), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing were utilized to identify common mutations in individuals with G6PD deficiency.
Results: The prevalence of G6PD deficiency among UAE nationals was 7.4% and non-UAE nationals 3.8%. UAE males showed prevalence of 11.6% while for UAE females it was 3.6%. The prevalence of G6PD deficiency among non-UAE nationals was 5 and 1.7% for males and females, respectively. The Mediterranean mutation, 563C→T, was predominant in non-UAE nationals.
Conclusion: G6PD Mediterranean mutation is the most prevalent mutation underlying G6PD deficiency followed by Aures mutations in both UAE nationals and non-UAE nationals. On the other hand, Africa A^- was found to be more in non-UAE compared with UAE nationals.

Keywords
Glucose-6-Phosphate Dehydrogenase deficiency; Mutation; Abu Dhabi; Polymerase chain reaction–restriction; Fragment length polymorphism