Identification of new and known polymorphisms in glycoprotein IIb and IIIa genes by denaturing gradient gel electrophoresis.

Glycoprotein IIb and IIIa contain antigenic determinants involved in the potential production of allo- or autoantibodies directed against platelets, that may result in severe thrombocytopenia. Most of these epitopes appear to be supported by single nucleotide substitutions. We have used denaturing gradient gel electrophoresis (DGGE) to identify sequence variations within the promoter and the coding regions of the glycoprotein IIb and glycoprotein IIIa genes.

Inherited bleeding disorder due to familial type 2 platelet cyclo-oxygenase deficiency.

Inherited platelet cyclo-oxygenase (COX) deficiency is a rare bleeding disorder. We report here the first case of familial type 2 platelet COX deficiency responsible for a moderate bleeding phenotype. The propositus was admitted in the emergency department for major epistaxis following treatment with aspirin.

Early fibrinogen degradation coagulopathy is predictive of parenchymal hematomas in cerebral rt-PA thrombolysis: a study of 157 cases.

Background: Little is known about the coagulation factors as predictors of cerebral bleeding in rt-PA thrombolysis. The aim of this study was to determine what early coagulation parameters could predict early hemorrhagic lesions.

Methods: Consecutive patients were included in the Lyon rt-PA protocol.

Two novel fibrinogen variants found in patients with pulmonary embolism and their families.

Background: The occurrence of dysfibrinogen is quite rare in comparison with other hemostatic defects, specially in cases of venous thrombosis.

Objectives: Fibrinogen is known to have multiple functions, which are not evaluated by simple coagulation testing. We have used gel electrophoresis to search for new mutations.

A splicing donor site point mutation in intron 6 of the plasmin inhibitor (alpha2 antiplasmin) gene with heterozygous deficiency and a bleeding tendency.

A new case of familial plasmin inhibitor (alpha2 antiplasmin) deficiency is reported. The bleeding symptoms are moderate, happening after surgery or trauma or consisting of abnormal uterine bleeding induced by hormone replacement therapy. It is easily corrected with tranexamic acid.