Severe prekallikrein deficiencies due to homozygous C529Y mutations

Blood Coagul Fibrinolysis. 2007 Apr;18(3):283-6. doi: 10.1097/MBC.0b013e328010bcde.

Abstract

Two consecutive severe prekallikrein deficiencies were investigated. The first was identified in a 63-year-old patient admitted for ischemic stroke. The second deficiency was identified in a 38-year-old patient admitted for a second-trimester pregnancy loss. A homozygous C529Y mutation was identified for both cases, whereas they are unrelated and no consanguineous marriage is known from the patients. These data point to a possible high frequency of this mutation as a cause of prekallikrein deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Homozygote
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Pregnancy
  • Pregnancy Complications
  • Prekallikrein / deficiency*
  • Prekallikrein / genetics*
  • Stroke

Substances

  • Prekallikrein