title: Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families.
abstract: BACKGROUND
  Most cases of β-thalassemia are caused by point mutations in the β-globin gene. Only a minority of β-thalassemia mutations are small deletions in the exons of the β-globin gene.
  
  
  METHODS
  Here, we report two cases of β-thalassemia that were caused by compound heterozygosity for a rare small deletion and a common point mutation.
  
  
  RESULTS
  Patient A carried a rare 14-bp deletion (CD89-93) mutation plus the common mutation -28(A>G). Patient B carried a rare 13-bp deletion (CD54-58) plus the common mutation IVS-2-654(C>T).
  
  
  CONCLUSIONS
  Patient B is the second report of the CD54-58(-13 bp) deletion. However, our report differs from the previous report in two ways: we performed a family study based on multiple samples; and the carriers and patient showed an elevated level of HbF, which was not observed in the previous case.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
authors.forename: X
authors.initials: X
authors.lastname: Shang
authors.forename: Z
authors.initials: Z
authors.lastname: Rao
authors.forename: J
authors.initials: J
authors.lastname: Lou
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.forename: F
authors.initials: F
authors.lastname: Xiong
authors.forename: H P
authors.initials: HP
authors.lastname: Zhou
authors.forename: X
authors.initials: X
authors.lastname: Xu
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016415:Sequence Alignment; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins