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

Yousef M. Abdulrazzaq, Rosette Micallef, M. Mansoor Qureshi, Adekunle Dawodu, Ibrahim Ahmed, Ali Khidr, Salim Mohamed A. Bastaki, Abdulla L. Al-Khayat, Riad A. Bayoumi

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24 Citations (Scopus)


The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals. 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 randomly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6PD 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 were further assessed: of these, all but one family had the nt563 Mediterranean mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. The high level of consanguinity which, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not found to be a significant factor.

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalClinical Genetics
Issue number1
Publication statusPublished - 1999


  • Females
  • G6PD
  • UAE

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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