Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation.
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.
Zdziarska
Joanna
J
Department of Hematology, Jagiellonian University School of Medicine, Krakow, Poland.
Undas
Anetta
A
Basa
Joanna
J
Iwaniec
Teresa
T
Skotnicki
Aleksander B
AB
de Moerloose
Philippe
P
Neerman-Arbez
Marguerite
M
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
D015241:Fibrinogens, Abnormal