De novo HBB frameshift mutation in a patient with dominant β-thalassemia major

Int J Lab Hematol. 2022 Feb;44(1):e21-e25. doi: 10.1111/ijlh.13669. Epub 2021 Jul 29.
No abstract available

Keywords: dominant mutation; elongated β-chain; frameshift mutation; β-thalassemia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Frameshift Mutation*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal