In three Italian patients, two point mutations and a short deletion were found in the intron 7 of factor VII gene, clustered in the donor splice site and located in the first of several repeats. The mutation 9726+5G-->A, the most frequent cause of symptomatic factor VII deficiency in Italy, as well as the deletion (9729del4) gave rise in expression studies to abnormally spliced transcripts, whi...

INTRODUCTION Factor VII deficiency is a rare cause of haemorrhagic syndrome. PRESENTATION OF CASE The authors describe a case of a 48 years old patient with congenital factor VII deficiency suffering abdominal discomfort diagnosed as gallstone, that successfully underwent laparoscopic cholecystectomy with continuous infusion of Human Prothrombin Complex(PPSB) around the procedure. CONCLUSIO...

The atherosclerotic basis of CHD and the pathogenic roles in this condition played by disturbances of lipoprotein metabolism, high blood pressure and cigarette smoking are well known (Grundy et al. 1987). In addition, the major cause of sudden cardiac death (Davies & Thomas, 1984), acute myocardial infarction (De Wood et al. 1980), unstable angina pectoris (Fuster & Chesebro, 1986) and silent m...

We have infused recombinant factor VIIa into patients with hereditary factor VII deficiency with marked reductions in plasma concentrations of factor IX activation peptide (FIXP), factor X activation peptide (FXP), and prothrombin activation fragment F1+2. These investigations show substantial elevations in these markers of coagulation activation and thereby demonstrate that the factor VII-tiss...

PURPOSE To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal ble...

Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition-even in homozygous subjects-to severe life-threatening bleedings (central nervous system, gastroi...

Background: The ABO Blood group system has been evaluated many a times for increased risk of vascular accidents and heart diseases. This study aims to prove that the reason behind the decreased risk of thrombosis in O blood group population could be the decreased levels of clotting factors in its plasma compared to other blood groups. Objective: To assess the levels of clotting factors VII, VII...