Factor XIII deficiency presenting with intracerebral bleed
نویسندگان
چکیده
منابع مشابه
Factor XIII deficiency: a review of literature
Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...
متن کاملGaucher Disease Presenting in an Adult with Intracerebral Bleed.
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme ...
متن کاملFactor XIII deficiency.
Inherited factor XIII (FXIII) deficiency is a rare bleeding disorder that can present with umbilical bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding and life-threatening intracranial haemorrhage. FXIII deficiency has also been associated with poor wound healing and recurrent miscarriages. FXIII plays an integral role in haemostasis by catalysing the cross-lin...
متن کاملFactor XIII deficiency in Pakistan.
Patients with undiagnosed haemostatic defects seen at The Aga Khan Hospital and Fatimid Blood Transfusion Centre during the period of 7 years (1985-1992) were screened with routine tests including bleeding time (BT), whole blood clotting time (CT), platelet count, activated partial thromboplastin time (APTT), prothrombin time (PT) and 5 molar urea test. Nine patients had a positive 5 molar urea...
متن کاملCurrent understanding in diagnosis and management of factor XIII deficiency
Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resis...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports
سال: 2013
ISSN: 1757-790X
DOI: 10.1136/bcr-2012-007303