MULTIPLE CONGENITAL COAGULATION DEFICIENCIES
نویسندگان
چکیده
منابع مشابه
Multiple congenital coagulation deficiencies.
A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.
متن کاملLarge deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.
UNLABELLED Congenital factor VII (FVII) and factor X (FX) deficiencies belong to the group of rare bleeding disorders which may occur in separate or combined forms since both the F7 and F10 genes are located in close proximity on the distal long arm of chromosome 13 (13q34). We here present data of 192 consecutive index cases with FVII and/or FX deficiency. 10 novel and 53 recurrent sequence al...
متن کاملFamilial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders.
Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. Recently, significant progress has been made in understanding the molecular mechanisms underlying these disorders. F5F8D is caused by mutations in two different genes (LMAN1...
متن کاملInhibitors in congenital coagulation disorders.
The development of inhibitory 'allo' antibodies to a deficient coagulation factor is arguably now the most severe and important complication of clotting factor concentrate exposure in haemophilia and other congenital coagulation disorders. Furthermore, development of an inhibitor to the factor VIII or factor IX transgene product remains a significant concern in gene therapy protocols for haemop...
متن کاملActivation of the coagulation cascade in C1-inhibitor deficiencies.
Activation of the contact and complement systems in C1-inhibitor deficiencies is thought to contribute to the pathogenesis of angioedema attacks by releasing kinins. Trigger stimuli of attacks may also activate coagulation. This is particularly important because experimental data suggest that thrombin, the main enzyme of the coagulation cascade, increases vascular permeability and can thus infl...
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: Journal of Clinical Pathology
سال: 1960
ISSN: 0021-9746
DOI: 10.1136/jcp.13.4.311