title: The first compound heterozygosity for HKalpha alpha allele and Southeast Asian deletion allele.
abstract: BACKGROUND
  In one program of newborn screening to detect deletional alpha-thalassemia with microarray, the microarray result of a 10-month-old girl showed that she was positive for the rightward deletion junction fragment, the Southeast Asian deletion junction fragment and alpha2.
  
  
  METHODS
  The girl and her parents were subjected to haematological and molecular analysis.
  
  
  RESULTS
  The haematological data revealed that the family presented a typical alpha-thalassemic trait. The molecular analysis showed that the girl and her mother were compound heterozygosity for HKalpha alpha allele and Southeast Asian deletion allele, and her father is compound heterozygosity for alpha alpha allele and Southeast Asian deletion allele.
  
  
  CONCLUSIONS
  We have detected a hitherto unreported compound heterozygosity for HKalpha alpha allele and Southeast Asian deletion allele. This case will provide some clinical implications for PCR-based diagnosis for deletional alpha-thalassemia.
authors.affiliation: College of Bioengineering, Chongqing University, Chongqing 400044, People's Republic of China. lzssc@yahoo.com
authors.forename: Zesong
authors.initials: Z
authors.lastname: Li
authors.forename: Shaoxi
authors.initials: S
authors.lastname: Cai
authors.forename: Kabin
authors.initials: K
authors.lastname: Rong
authors.forename: Guanbin
authors.initials: G
authors.lastname: Song
authors.forename: Yuan
authors.initials: Y
authors.lastname: Li
authors.forename: Ruijun
authors.initials: R
authors.lastname: Guo
mesh_terms: D000328:Adult; D002681:China; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D019656:Loss of Heterozygosity; D008297:Male; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal