title: Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families.
abstract: OBJECTIVE
  This study aimed to describe hematologic and molecular characterization of the interaction of hemoglobin (Hb) E and several forms of alpha-thalassemia causing complex thalassemia syndromes in two Cambodian families as well as to establish a rapid polymerase chain reaction (PCR) assay for simultaneous detection of Hb Constant Spring (CS) and Hb Pakse' (PS).
  
  
  METHODS
  Using PCR and DNA sequencing, the alpha- and beta-globin genotypes were examined. Clinical and hematologic data were assessed. A multiplex asymmetric allele-specific PCR for differential diagnosis of HbCS and HbPS was developed and validated.
  
  
  RESULTS
  Eight genotypes including heterozygous HbCS, heterozygous HbPS, double heterozygous HbE/HbPS, double heterozygous HbE/alpha-thalassemia 2, triple heterozygous HbE/alpha-thalassemia /HbPS, homozygous HbE/alpha-thalassemia 2, compound alpha-thalassemia 2/HbCS and a hitherto undescribed compound HbCS/HbPS were found in these two families. Genotype-phenotype relationships are discussed and successful application of a multiplex PCR system for differential diagnosis of HbCS and HbPS is described.
  
  
  CONCLUSIONS
  The interaction of several globin gene abnormalities in Cambodian families emphasizes the high frequencies of thalassemia and hemoglobinopathies. Identification of HbPS suggests that this mutation might be common and underestimated among South-east Asian populations. A simplified PCR assay for simultaneous detection of HbCS and HbPS would facilitate characterization of these genotypes in both the clinical setting and population screening programs in the region.
authors.affiliation: Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand, 40002. supan@kku.ac.th
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Sitthichai
authors.initials: S
authors.lastname: Panyasai
authors.forename: Robyn
authors.initials: R
authors.lastname: Devenish
authors.forename: Lyda
authors.initials: L
authors.lastname: Luy
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002160:Cambodia; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006446:Hemoglobin E / Q000235:genetics / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D025941:Protein Interaction Mapping / Q000379:methods*; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D017085:alpha-Thalassemia / Q000235:genetics / Q000378:metabolism*
chemical_list: D006455:Hemoglobins, Abnormal; D020033:Protein Isoforms; C099132:hemoglobin Pakse; D006446:Hemoglobin E; C035541:Hemoglobin Constant Spring