Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation
| Autor: | Philippe de Moerloose, Joanna Basa, Marguerite Neerman-Arbez, Joanna Zdziarska, Anetta Undas, Aleksander B. Skotnicki, Teresa Iwaniec |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Abortion
Habitual medicine.medical_specialty Heterozygote Mucocutaneous zone DNA Mutational Analysis Mutation Missense Hemorrhage Afibrinogenemia/complications/genetics Postoperative Hemorrhage Fibrinogen Gastroenterology Postoperative Hemorrhage/etiology Antiphospholipid syndrome Pregnancy Shock/etiology Internal medicine medicine Coagulopathy Humans Point Mutation ddc:576.5 Hemorrhage/etiology Aged ddc:616 Wound Healing medicine.diagnostic_test business.industry Fibrinogens Abnormal Fibrinogens Abnormal/genetics Shock Hematology General Medicine Hypofibrinogenemia Afibrinogenemia medicine.disease Surgery Abortion Habitual/etiology Phenotype Coagulation Amino Acid Substitution Female business Liver function tests medicine.drug |
| Zdroj: | Blood Coagulation and Fibrinolysis, Vol. 20, No 5 (2009) pp. 374-6 |
| ISSN: | 0957-5235 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|