Abstract
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 Awas 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
Highlights
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an essential enzyme that reduces nicotinamide adenine dinucleotide phosphate (NADP) to the reduced form (NADPH)
This study aims to determine the prevalence of G6PD deficiency and to characterize its molecular basis in a large sample of United Arab Emirates (UAE) and non-UAE nationals residing in Abu Dhabi using fluorescent spot test, PCR-RFLP, denaturing high performance liquid chromatography (DHPLC) and DNA sequencing
This study considered one of the few reports which have been done in Abu Dhabi District to evaluate the frequency of different G6PD mutations
Summary
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an essential enzyme that reduces nicotinamide adenine dinucleotide phosphate (NADP) to the reduced form (NADPH). G6PD deficiency is the most common human enzymopathy that causes a spectrum of diseases including acute and chronic hemolysis of red blood cells, hereditary non spherocytic hemolytic anemia and life threatening kernicterus in newborn. In this condition, acute hemolysis is triggered by infections, favism (fava beans ingestion) and drugs [1]. Acute hemolysis is triggered by infections, favism (fava beans ingestion) and drugs [1] This X-linked inherited disorder most commonly affects individuals of African, Asian, Mediterranean, and Middle-East regions. In an earlier study performed in the Central Hospital, Abu Dhabi, prevalence of G6PD deficiency in UAE nationals was reported to be more than 25% [3]
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