title: Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation.
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.
authors.affiliation: Department of Hematology, Jagiellonian University School of Medicine, Krakow, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Zdziarska
authors.forename: Anetta
authors.initials: A
authors.lastname: Undas
authors.forename: Joanna
authors.initials: J
authors.lastname: Basa
authors.forename: Teresa
authors.initials: T
authors.lastname: Iwaniec
authors.forename: Aleksander B
authors.initials: AB
authors.lastname: Skotnicki
authors.forename: Philippe
authors.initials: P
authors.lastname: de Moerloose
authors.forename: Marguerite
authors.initials: M
authors.lastname: Neerman-Arbez
mesh_terms: D000026:Abortion, Habitual / Q000209:etiology*; D000347:Afibrinogenemia / Q000150:complications / Q000235:genetics*; D000368:Aged; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D019106:Postoperative Hemorrhage / Q000209:etiology; D011247:Pregnancy; D012769:Shock / Q000209:etiology; D014945:Wound Healing
chemical_list: D015241:Fibrinogens, Abnormal