Abstract
Objective: To evaluate the association between glucose-6-phosphate dehydrogenase (G6PD) mutations including Mediterranean mutation (exon 6 C563T), Mahidol mutation (exon 6 G487A), Chatham mutation (G1003A) and hemolytic anemia incidence in Saudi population
Design: Cross-section study
Setting: Department of Hematology at the Maternity and Children's Hospital located in Jeddah, Saudi Arabia
Subjects: One hundred blood samples (50 males and 50 females) were collected from neonates.
Intervention: Neonates aged from newborn to 12 months old
Main outcome measures: Cases were asked to answer a questionnaire. Quantitative evaluation of G6PD enzyme activity was performed using spectrophotometric method. Genotypes and allele frequencies were studied by polymerase chain reaction and restriction fragment length polymorphism for the three single nucleotide polymorphisms. Descriptive data were calculated as the mean +/- standard deviation. Association between clusters of genotypes was evaluated using Mann-Whitney and Chi-square tests.
Results: The Mediterranean mutation was the most common mutation detected in the male and female groups, whereas Chatham and Mahidol mutations were found in a fewer number of male samples. In total, out of 50 newborns, 22 males and 25 female subjects (44%) were with Mediterranean mutation; one male was Chatham with Mediterranean mutations (2%), one male had only Chatham mutation (2%) and other had Mahidol mutation (2%). Three females (heterozygous CT) belongs to class II G6PD variant and suffered from severe hemolytic anemia. The nucleotide 563T was the most frequent polymorphism observed followed by nucleotide 1003A and 487A.
Conclusion: Our finding strengthens the evidence for the association between G6PD deficiency and genetic variation of G6PD genes in the etiology of hemolytic anemia.