Diversity in expression of glucose-6-phosphate dehydrogenase deficiency infemales

The aims of this study were to determine the prevalence of glucose-6-phosph ate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to d escribe the different mutations in the population, to determine its prevale nce, and to study inheritance patterns in families of G6PD-deficient indivi duals. All infants born at Tawam Hospital, Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status. In addition, those attending well-baby clinics during the period were also screened for the disorder. Families of 40 known G6PD-deficient individuals, selected ran domly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6P D mutations. Of 8198 infants, 746 (9.1%), comprising 15% of males and 5% of females tested, were found to be G6PD deficient. A total of 27 families we re further assessed: of these, all but one family had the nt563 Mediterrane an mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the prefe rential expression of the G6PD-deficient gene and X-inactivation of the nor mal gene, and/or to the presence of an 'enhancer' gene that makes the expre ssion of the G6PD deficiency more likely. The high level of consanguinity w hich, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not fo und to be a significant factor.