title: Molecular Heterogeneity of Thalassemia among Pregnant Laotian Women.
abstract: OBJECTIVE
  A pilot screening program for thalassemia was initiated in the Lao People's Democratic Republic. This study aimed to describe the genotype diversity and hematologic features of thalassemia among the participating pregnant women.
  
  
  METHODS
  Blood samples of 411 pregnant Laotian women were collected. Hemoglobin (Hb) profiles were determined using a capillary zone electrophoresis system. Mutations of α- and β-globin genes were investigated using a polymerase chain reaction and related techniques.
  
  
  RESULTS
  As many as 26 different thalassemia genotypes including non-transfusion-dependent thalassemia, i.e. Hb E-β-thalassemia, Hb H, and EA Bart's diseases, were identified. A variety of phenotypic expressions of hematologic features and Hb profiles were observed, including an unusual phenotype of Hb E-β0 thalassemia with 89.1% Hb E, 1.6% Hb F, and 9.3% Hb A2.
  
  
  CONCLUSIONS
  The remarkable genotype-phenotype diversity indicates a need for careful laboratory interpretation in order to provide appropriate genetic counseling and care to the Laotian population.
authors.affiliation: Biomedical Sciences Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Kasama
authors.initials: K
authors.lastname: Wongprachum
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.forename: Maneelay
authors.initials: M
authors.lastname: Dethvongphanh
authors.forename: Boualay
authors.initials: B
authors.lastname: Norcharoen
authors.forename: Bousanit
authors.initials: B
authors.lastname: Htalongsengchan
authors.forename: Virack
authors.initials: V
authors.lastname: Vidamaly
authors.forename: Pattara
authors.initials: P
authors.lastname: Sanchaisuriya
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Frank P
authors.initials: FP
authors.lastname: Schelp
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D003430:Cross-Sectional Studies; D019075:Electrophoresis, Capillary; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007812:Laos; D010641:Phenotype; D011247:Pregnancy; D013789:Thalassemia / Q000235:genetics* / Q000473:pathology; D055542:alpha-Globins / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins; D006446:Hemoglobin E