A novel variant causing α2 antiplasmin deficiency: case report and experience in a UK centre

Br J Haematol. 2019 Oct;187(2):e42-e44. doi: 10.1111/bjh.16165. Epub 2019 Aug 22.
No abstract available

Keywords: bleeding disorder; thrombogenomics; α-2 antiplasmin deficiency.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Fibrinolysis / genetics
  • Hemorrhagic Disorders / blood
  • Hemorrhagic Disorders / diagnostic imaging
  • Hemorrhagic Disorders / genetics*
  • Homozygote*
  • Humans
  • Male
  • Pedigree*
  • United Kingdom
  • alpha-2-Antiplasmin / deficiency*
  • alpha-2-Antiplasmin / genetics

Substances

  • SERPINF2 protein, human
  • alpha-2-Antiplasmin

Supplementary concepts

  • Anti-plasmin deficiency, congenital