Abstract
BackgroundThe development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies. We carried out a study on glucose-6-phosphate dehydrogenase (G6PD) deficient subjects in Jeddah to evaluate the molecular characteristics of this enzyme deficiency and the frequency of nucleotide1311 and IVS-XI-93 polymorphisms in the glucose-6-phosphate dehydrogenase gene.ResultsA total of 1584 unrelated Saudis (984 neonates and 600 adults) were screened for glucose-6-phosphate dehydrogenase deficiency. The prevalence of glucose-6-phosphate dehydrogenase deficiency was 6.9% (n = 110). G6PD Mediterranean mutation was observed in 98 (89.1%) cases, G6PD Aures in 11 (10.0%) cases, and G6PD Chatham in 1 (0.9%) case. None of the samples showed G6PD A‾ mutation. Samples from 29 deficient subjects (25 males and 4 females) were examined for polymorphism. The association of two polymorphisms of exon/intron 11 (c.1311T/IVS-XI-93C) was observed in 14 (42.4%) of 33 chromosomes studied. This association was found in 9 (31.0%) carriers of G6PD Mediterranean and in 4 (13.8%) carriers of G6PD Aures.ConclusionsThe majority of mutations were G6PD Mediterranean, followed by G6PD Aures and < 1% G6PD Chatham. We conclude that 1311T is a frequent polymorphism in subjects with G6PD Mediterranean and Aures variants in Jeddah.
Highlights
The development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies
glucose-6-phosphate dehydrogenase (G6PD) Mediterranean mutation was observed in 98 (89.1%) cases, G6PD Aures in 11 (10.0%) cases, and G6PD Chatham in 1 (0.9%) case
We identified 3 variants; G6PD Mediterranean, G6PD Aures and G6PD Chatham (Table 2)
Summary
The development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies, accounting for over 400 million cases worldwide [1,2,3]. Most cases of glucose-6-phosphate dehydrogenase deficiency occur in males [4]. Affected individuals are usually asymptomatic, and go through life without being aware of their deficiency. They are, at risk of having acute hemolytic crises in response to infection, eating fava beans, and to drugs having a high oxidation potential [5]. Ethnic origin, and clinical presentation, more than 400 variants of glucose6-phosphate dehydrogenase have been distinguished in the past.
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