title: Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population.
abstract: BACKGROUND
  In Vietnam the blackwater fever syndrome (BWF) has been associated with malaria infection, quinine ingestion and G6PD deficiency. The G6PD variants within the Vietnamese Kinh contributing to the disease risk in this population, and more generally to haemoglobinuria, are currently unknown.
  
  
  METHODS
  Eighty-two haemoglobinuria patients and 524 healthy controls were screened for G6PD deficiency using either the methylene blue reduction test, the G-6-PDH kit or the micro-methaemoglobin reduction test. The G6PD gene variants were screened using SSCP combined with DNA sequencing in 82 patients with haemoglobinuria, and in 59 healthy controls found to be G6PD deficient.
  
  
  RESULTS
  This study confirmed that G6PD deficiency is strongly associated with haemoglobinuria (OR = 15, 95% CI [7.7 to 28.9], P < 0.0001). Six G6PD variants were identified in the Vietnamese population, of which two are novel (Vietnam1 [Glu3Lys] and Vietnam2 [Phe66Cys]). G6PD Viangchan [Val291Met], common throughout south-east Asia, accounted for 77% of the variants detected and was significantly associated with haemoglobinuria within G6PD-deficient ethnic Kinh Vietnamese (OR = 5.8 95% CI [114-55.4], P = 0.022).
  
  
  CONCLUSIONS
  The primary frequency of several G6PD mutations, including novel mutations, in the Vietnamese Kinh population are reported and the contribution of G6PD mutations to the development of haemoglobinuria are investigated.
authors: Oxford University Clinical Research Unit, Hospital for Tropical Diseases, 190 Ben Ham Tu, District 5, Ho Chi Minh City, Vietnam. nthue@hcmiu.edu.vn
authors: Nguyen Thi
authors: NT
authors: Hue
authors: Jean Paul
authors: JP
authors: Charlieu
authors: Tran Thi Hong
authors: TT
authors: Chau
authors: Nick
authors: N
authors: Day
authors: Jeremy J
authors: JJ
authors: Farrar
authors: Tran Tinh
authors: TT
authors: Hien
authors: Sarah J
authors: SJ
authors: Dunstan
mesh_terms: D001210:Asia, Southeastern; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006456:Hemoglobinuria / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008751:Methylene Blue; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D014744:Vietnam / Q000453:epidemiology
chemical_list: D005954:Glucosephosphate Dehydrogenase; D008751:Methylene Blue