Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in a University Community in Malaysia

Purpose: To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among staff and students of a university community in Malaysia as well as to identify molecular genetics by determination of G6PD mutations.
Methods: Cross-sectional and experimental studies were carried out on the staff and students of Advanced Medical and Dental Institute (AMDI) of Universiti Sains Malaysia (USM) from July 2009 to April 2010. Venous blood samples were collected from 87 individuals (45 males and 42 females), all of whom gave informed consent. Full blood count, reticulocyte count, screening test and quantitative determination of G6PD were performed. The deficient subjects were confirmed by standard PCR restriction enzyme. DNA samples from these subjects were analyzed for certain known G6PD mutations by digesting them with appropriate restriction enzymes.
Results: Out of the 87 subjects (80 were Malay, 2 were Chinese, 1 was Indian and 4 were others). The total prevalence of G6PD deficiency among the subjects was 4.59 % (4/87), all of whom were Malay males. One of the deficient subjects had G6PD Viangchan, while the other three were G6PD Mahidol (487 G>A).
Conclusion: The finding of this study demonstrate that the most common mutation among AMDI staff and students is Mahidol (487G>A), followed by mutation Viangchan (871G>A).

Keywords
Glucose-6-Phosphate Dehydrogenase; Mahidol; Viangchan; Haemolytic anaemia