Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia

Pathology. 1992 Jan;24(1):15-8. doi: 10.3109/00313029209063614.

Abstract

Normal HbA2 beta thalassemia in a Greek individual was shown to be due to co-inheritance of beta and delta thalassemias. The genetic defects were characterized by enzymatic amplification of the beta and delta globin genes and direct genomic sequencing. Two children with a typical high HbA2 beta thalassemia trait had inherited the beta thalassemia allele whilst a third child had low-normal HbA2 associated with delta+ thalassemia. Segregation patterns confirmed that the delta+/beta zero thalassemia defects were present in trans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • DNA / genetics*
  • Female
  • Gene Amplification
  • Globins / genetics*
  • Hemoglobin A2 / analysis
  • Hemoglobin A2 / genetics
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA
  • Hemoglobin A2