en
Scientific article
English

Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation

Published inBlood coagulation & fibrinolysis, vol. 20, no. 5, p. 374-376
Publication date2009
Abstract

We report a case of hypofibrinogenemia caused by heterozygosity for gamma Ala82Gly in a 69-year-old Polish woman with severe bleeding tendency and a history of six miscarriages. She suffered from frequent mucocutaneous bleedings, epistaxes requiring therapeutic interventions, prolonged bleedings after tooth extractions and surgical interventions. Her mother and sister had bleeding tendency. Fibrinogen levels ranged from 0.93 to 2.0 g/l (von Clauss method). Fibrinogen antigen levels determined by immunonephelometry were about 2 g/l. No other coagulation, platelet or liver function tests yielded abnormal results. Antiphospholipid syndrome was excluded. This report suggests that the fibrinogen gamma Ala82Gly mutation could have variable clinical presentation.

Keywords
  • Abortion, Habitual/etiology
  • Afibrinogenemia/complications/genetics
  • Aged
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Female
  • Fibrinogens, Abnormal/genetics
  • Hemorrhage/etiology
  • Heterozygote
  • Humans
  • Mutation, Missense
  • Phenotype
  • Point Mutation
  • Postoperative Hemorrhage/etiology
  • Pregnancy
  • Shock/etiology
  • Wound Healing
Citation (ISO format)
ZDZIARSKA, Joanna et al. Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation. In: Blood coagulation & fibrinolysis, 2009, vol. 20, n° 5, p. 374–376. doi: 10.1097/MBC.0b013e328329f27a
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Article (Published version)
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Identifiers
ISSN of the journal0957-5235
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