Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency

Br J Haematol. 1996 Sep;94(3):526-8. doi: 10.1046/j.1365-2141.1996.d01-1833.x.

Abstract

Fibrinogen Matsumoto II is a hereditary dysfibrinogenaemia identified in a woman with Basedow's disease and a bleeding tendency. Coagulation tests of the patient's plasma revealed a prolonged thrombin time and a decreased fibrinogen level determined by functional method. Release of fibrinopeptide A and B was normal, whereas fibrin monomer polymerization was delayed. Fibrinogen gamma-chain gene of the propositus was heterozygous for a missense mutation that resulted in Asn-->Lys substitution at codon 308. Though the same amino acid substitution was also attributed to fibrinogen Kyoto I and Bicetre II, fibrinogen Matsumoto II showed different clinical manifestations from them.

Publication types

  • Case Reports

MeSH terms

  • Afibrinogenemia / genetics*
  • Base Sequence
  • Blood Coagulation Disorders / genetics*
  • Female
  • Fibrinogens, Abnormal / genetics*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Postpartum Hemorrhage / genetics
  • Pregnancy

Substances

  • Fibrinogens, Abnormal