title: Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
authors.affiliation: Kobe University Graduate School of Medicine, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.forename: Kaoru
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Taku
authors.initials: T
authors.lastname: Shirakawa
authors.forename: Carmencita David
authors.initials: CD
authors.lastname: Padilla
authors.forename: Lai Poh
authors.initials: LP
authors.lastname: San
authors.forename: Purnomo
authors.initials: P
authors.lastname: Suryantoro
authors.forename: Narazah Mohd
authors.initials: NM
authors.lastname: Yusoff
authors.forename: Nguyen Thi Ngoc
authors.initials: NT
authors.lastname: Dao
mesh_terms: D001210:Asia, Southeastern; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D019353:Endemic Diseases; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008288:Malaria / Q000453:epidemiology; D015997:Neonatal Screening; D020133:Reverse Transcriptase Polymerase Chain Reaction