Characterization of mutations and polymorphisms in the G6PD among Filipino newborns with glucose-6-phosphate dehydrogenase deficiency
- Author:
David-Padilla Carmencita
;
Abaya Christian Eric S.
;
Cutiongco-de la Paz Eva Maria
;
Silao Catherine Lynn T.
;
Shirakawa Taku
;
Nishiyama Kauru
;
Matsuo Masafumi
- Publication Type:Journal Article
- MeSH:
Human;
Male;
Female;
Infant;
Infant Newborn;
GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY;
HEMIC AND LYMPHATIC DISEASES;
HEMATOLOGIC DISEASES;
ANEMIA;
ANEMIA, HEMOLYTIC;
ANEMIA, HEMOLYTIC, CONGENITAL;
NEONATAL SCREENING;
INFANT, NEWBORN, SCREENING;
NEWBORN INFANT SCREENING;
MUTATION
- From:
Acta Medica Philippina
2011;45(4):53-57
- CountryPhilippines
- Language:English
-
Abstract:
Background. Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency to date. The global prevalence of G6PD deficiency is estimated at around 330 million people affected with the disease worldwide. This 4.9 percent prevalence, correlates highly with geographic areas endemic to malaria. It is the most common among the disorders in the Newborn Screening (NBS) panel in the Philippines, with one confirmed case for every 52 newborns (1:52). This paper determines the molecular background of G6PD deficiency among Filipino newborns detected by newborn screening.
Methods. A total of 200 cases confirmed to have G6PD deficiency, 180 males and 20 females, were identified through the Philippine Newborn Screening Program from 2001-2003. Genomic DNA was extracted from dried blood spots followed by multiplex polymerase chain reaction using multiple tandem forward primers and a common reverse primer (MPTP) to detect previously reported common mutations and polymorphisms in exons 5, 6, 9, 11 and 12 of the G6PD gene.
Results. Of the 200 samples analyzed, mutations and polymorphisms in the G6PD gene were identified in 148 cases (74%). The most common mutation was a G to A transition on nucleotide 871 (Viangchan) of exon 9 in combination with a silent mutation on exon 11, accounting for 32.9% of the cases. This was followed by a C to T transition on nucleotide 1360 (Union) in 21.1 % of the cases. Other mutations were Vanua Lava in 10%, Chatham in 9.4% and Canton in 3.5% of the newborns. The silent polymorphism on nucleotide 1311 was present in 12.9% of cases. There were combinations of these mutations and polymorphisms present in a minority of cases.
Conclusion. Results of this study showed the molecular heterogeneity underlying G6PD deficiency among Filipino newborns.
