Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia

Hemoglobin. 2010 Jan;34(2):179-83. doi: 10.3109/03630261003670226.

Abstract

Hereditary persistence of fetal hemoglobin (HPFH), often associated with mutations in the beta-globin gene cluster, is normally benign, but a person carrying both HPFH and another beta-thalassemia (beta-thal) mutation will develop serious anemia. These people might be erroneously diagnosed as having homozygous beta-thal with common reverse dot-blot methods. Here we report a 5-year old boy with thalassemia intermedia, who is a compound heterozygote for the rare HPFH-6 deletion with codons 41/42 (-TCTT) beta(0)-thal, who inherited the deletion from his mother and the beta(41/42) mutation from his father.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • China
  • Codon / genetics
  • DNA Mutational Analysis / methods
  • Diagnostic Errors
  • Female
  • Fetal Hemoglobin / analysis*
  • Heterozygote
  • Humans
  • Immunoblotting
  • Infant
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction / methods*
  • Sequence Deletion
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • beta-Globins
  • Fetal Hemoglobin