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Title

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

Authors
Zdziarska, Joanna
Undas, Anetta
Basa, Joanna
Iwaniec, Teresa
Skotnicki, Aleksander B.
Published in Blood Coagulation and Fibrinolysis. 2009, vol. 20, no. 5, p. 374-6
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/etiologyAfibrinogenemia/complications/geneticsAgedAmino Acid SubstitutionDNA Mutational AnalysisFemaleFibrinogens, Abnormal/geneticsHemorrhage/etiologyHeterozygoteHumansMutation, MissensePhenotypePoint MutationPostoperative Hemorrhage/etiologyPregnancyShock/etiologyWound Healing
Identifiers
PMID: 19300242
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Structures
Research groups Anticorps antiphospholipides (12)
Bases moléculaires des anomalies génétiques de l'hémostase (504)
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ZDZIARSKA, Joanna et al. Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation. In: Blood Coagulation and Fibrinolysis, 2009, vol. 20, n° 5, p. 374-6. https://archive-ouverte.unige.ch/unige:5480

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Deposited on : 2010-03-18

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