combined factor v and viii deficiency
نویسندگان
چکیده
this review summarizes current data on the pathomechanisms and new genetic findings of combined factor v and viii deficiency (cf5f8d). congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. among dual coagulation disorders, cf5f8d is the most common type. for the first time combined factor v and viii deficiency (f5f8d) was reported by oeri et al in 1954. that is distinct from the coinheritance of both fv deficiency (parahaemophilia) and fviii deficiency (haemophilia a) that has been reported in four families . individuals who present with this phenotype have between 5 and 30% of normal plasma levels of fv and fviii antigen and activity, whereas the level of other plasma proteins are not altered . total numbers of affected individuals are less than 150 cases in all over the world. at first it was assumed that deficiency of protein c inhibitor was a responsible cause, but further investigations revealed that it was due to mutations called ergic-53 and lman-1.
منابع مشابه
Combined Factor V and VIII Deficiency
This review summarizes current data on the pathomechanisms and new genetic findings of combined factor V and VIII deficiency (CF5F8D). Congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. Among dual coagulation disorders, CF5F8D is the most common type. For the first time combined factor V and VIII deficiency (F5F8D) was reported b...
متن کاملFACTOR V AND VIII INHIBITOR IN PATIENTS WITH COMBINED FACTOR V AND VIII DEFICIENCY
Patients with coagulation factor(s) deficiency who use coagulation therapy are susceptible to forming inhibitors against coagulation factor(s). In this survey we detected factor V and VIII inhibitor in ten patients with combined deficiency of factors V and VIII from north east of Iran (Khorassan province). It was revealed in our survey that eight patients had both factor V and factor VIII i...
متن کاملfactor v and viii inhibitor in patients with combined factor v and viii deficiency
patients with coagulation factor(s) deficiency who use coagulation therapy are susceptible to forming inhibitors against coagulation factor(s). in this survey we detected factor v and viii inhibitor in ten patients with combined deficiency of factors v and viii from north east of iran (khorassan province). it was revealed in our survey that eight patients had both factor v and factor viii inhib...
متن کاملNadir görülen birliktelik: Kombine faktör V ve VIII eksikliği A rare combination: Combined factor V and factor VIII deficiency
Correspondence: Başak Ünver Koluman, Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, Hematoloji Kliniği, Ankara, Türkiye Email: [email protected] Received: 02.12.2013, Accepted: 04.03.2014 Copyright © JCEI / Journal of Clinical and Experimental Investigations 2014, All rights reserved JCEI / 2014; 5 (2): 323-325 Journal of Clinical and Experimental Investigations doi: 10.5799/ahinjs....
متن کاملCombined factor V-VIII deficiency: a case report with studies of factor V and VIII activation by thrombin.
A new case of combined factor V-VIII deficiency is reported with in vitro studies of factors V and VIII activation by thrombin. The normal activation of factors V and VIII demonstrated in the patient's plasma and the equivalent levels of factor VIII coagulant activity and coagulant antigen support the hypothesis that a quantitative rather than qualitative defect in factors V and VIII is present...
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عنوان ژورنال:
iranian journal of medical sciencesجلد ۳۲، شماره ۳، صفحات ۱۳۱-۰
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