Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.
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.
Matsuo
Masafumi
M
Kobe University Graduate School of Medicine, Japan.
Nishiyama
Kaoru
K
Shirakawa
Taku
T
Padilla
Carmencita David
CD
San
Lai Poh
LP
Suryantoro
Purnomo
P
Yusoff
Narazah Mohd
NM
Dao
Nguyen Thi Ngoc
NT
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