Academic Journal
The fibrinogen Aα R16C mutation results in fibrinolytic resistance
| العنوان: | The fibrinogen Aα R16C mutation results in fibrinolytic resistance |
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| المؤلفون: | Flood, Veronica H., Al‐Mondhiry, Hamid A., Farrell, David H. |
| المصدر: | British Journal of Haematology ; volume 134, issue 2, page 220-226 ; ISSN 0007-1048 1365-2141 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2006 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Summary The fibrinogen A α R16C mutation is a common cause of dysfibrinogenaemia and has been previously associated with both bleeding and thrombosis. However, the mechanism underlying the thrombotic phenotype has not yet been elucidated. This report characterises the defect in fibrinolysis seen as a result of the A α R16C mutation. A young patient with dysfibrinogenaemia (fibrinogen Hershey III) was found to be heterozygous for the A α R16C mutation. Functional assays were performed on the purified fibrinogen to characterise clot formation and lysis with plasmin and trypsin. Consistent with previous results, clot formation was diminished. Unexpectedly, fibrinolysis was also delayed. Plasminogen activation was normal, ruling out decreased plasmin generation as the mechanism behind the fibrinolytic resistance. Western blot analysis showed no difference in the amount of bound α 2 ‐antiplasmin or albumin. When clot lysis was assayed with trypsin substituted for plasminogen, a significant delay was also observed, indicating that defective binding to plasminogen could not explain the fibrinolytic resistance. These results suggest that the defective fibrinolysis is due to increased proteolytic resistance, most likely reflecting changes in clot structure. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1111/j.1365-2141.2006.06129.x |
| الاتاحة: | http://dx.doi.org/10.1111/j.1365-2141.2006.06129.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2141.2006.06129.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2141.2006.06129.x |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.673A36F5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1365-2141.2006.06129.x |
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