title: Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.
abstract: BACKGROUND
  Hemoglobin Constant Spring (Hb CS) is an abnormal Hb caused by a mutation at the termination codon of α2-globin gene found commonly among Southeast Asian and Chinese people. Association of Hb CS with α°-thalassemia leads to a thalassemia intermedia syndrome commonly encountered in the region. We report chromosome background and addressed genetic origins of Hb CS observed in a large cohort of Hb CS among Southeast Asian populations.
  
  
  METHODS
  A study was done on 102 Vietnamese (aged 15-49 year-old) and 40 Laotian (aged 18-39 year-old) subjects with Hb CS and results compared with 120 Hb CS genes in Thailand. Hematological parameters were recorded and Hb analysis was performed using capillary electrophoresis. Hb CS mutation and thalassemia genotypes were defined by DNA analysis. Six DNA polymorphisms within α-globin gene cluster including 5'Xba I, Bgl I, Inter-zeta HVR, AccI, RsaI and αPstI 3', were determined using PCR-RFLP assay.
  
  
  RESULTS
  Nine different genotypes of Hb CS were observed. In contrast to the Thai Hb CS alleles which are mostly linked to haplotype (+-S + + -), most of the Vietnamese and the Laotian Hb CS genes were associated with haplotype (+-M + + -), both of which are different from that of the European Hb CS.
  
  
  CONCLUSIONS
  Hb CS is commonly found in combination with other thalassemias among Southeast Asian populations. Accurate genotyping of the cases requires both hematologic and DNA analyses. At least two independent origins are associated with the Hb CS gene which could indirectly explain the high prevalence of this Hb variant in the region.
authors.affiliation: Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.|Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Wittaya
authors.initials: W
authors.lastname: Jomoui
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.affiliation: Hue Colleges of Medicine and Pharmacy, Hue, Vietnam.
authors.forename: Van Hoa
authors.initials: VH
authors.lastname: Nguyen
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007812:Laos / Q000453:epidemiology; D008875:Middle Aged; D010802:Phylogeny; D015995:Prevalence; D014744:Vietnam / Q000453:epidemiology; D055815:Young Adult; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring