Combined factors V and VIII deficiency.
نویسندگان
چکیده
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 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...
متن کاملLinkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.
Combined Factors V and VIII deficiency is an autosomal recessive bleeding disorder identified in at least 58 families comprising a number of different ethnic groups. Affected patients present with a moderate bleeding tendency and have Factor V and Factor VIII levels in the range of 5-30% of normal. The highest frequency of the mutant gene is found in Jews of Sephardic and Middle Eastern origin ...
متن کاملMutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII
Combined deficiency of factors V and VIII is an autosomal recessive bleeding disorder resulting from alterations in an unknown gene on chromosome 18q, distinct from the factor V and factor VIII genes. ERGIC-53, a component of the ER-Golgi intermediate compartment, was mapped to a YAC and BAC contig containing the critical region for the combined factors V and VIII deficiency gene. DNA sequence ...
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عنوان ژورنال:
- Indian pediatrics
دوره 27 6 شماره
صفحات -
تاریخ انتشار 1990