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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.
De Moerloose, Philippe
Neerman Arbez, Marguerite
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/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
Identifiers
PMID: 19300242
Full text
Article (Published version) (123 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Other version: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&NEWS=N&PAGE=fulltext&AN=00001721-200907000-00012&LSLINK=80&D=ovft
Structures
Faculté de médecine / Section de médecine clinique / Département de médecine interne des spécialités
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research groups Anticorps antiphospholipides (12)
Bases moléculaires des anomalies génétiques de l'hémostase (504)
Citation
(ISO format) 		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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