Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing

Am J Hematol. 2015 Mar;90(3):E52-4. doi: 10.1002/ajh.23913. Epub 2015 Jan 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Multiplex Polymerase Chain Reaction
  • Mutation
  • Pedigree
  • Thalassemia / diagnosis*
  • Thalassemia / genetics
  • Thalassemia / pathology
  • beta-Globins / genetics*
  • delta-Globins / genetics*
  • epsilon-Globins / genetics*
  • gamma-Globins / genetics*

Substances

  • beta-Globins
  • delta-Globins
  • epsilon-Globins
  • gamma-Globins