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

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.

• Authors: N Okumura, K Furihata, F Terasawa, S Ishikawa, I Ueno, T Katsuyama
• Journal: British journal of haematology (Br J Haematol) Vol. 94 Issue 3 Pg. 526-8 (Sep 1996) ISSN: 0007-1048 [Print] England
• PMID: 8790154 (Publication Type: Case Reports, Journal Article)

Chemical References

• Fibrinogens, Abnormal

Topics

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