Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus

Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17.
No abstract available

Keywords: late-onset; monogenic disease; somatic deletion; thalassaemia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Base Sequence*
  • Female
  • Genetic Loci*
  • Humans
  • Multigene Family*
  • Sequence Deletion*
  • beta-Globins / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins