This is a bleeding disorder caused by deficiency of clotting factor VIII. The vast majority of cases are inherited but acquired forms do exist, largely in older patients, due to autoantibodies directed against factor VIII or haematological malignancy. [2] Severity of disease depends upon levels of remaining factor activity, with normal range expressed as 50-200% (refer to local laboratory for r...

To test the hypothesis that factor VIII expressed in the epidermis can correct hemophilia A, we generated transgenic mice in a factor VIII-deficient background that express human factor VIII under control of the involucrin promoter. Mice from 5 transgenic lines had both phenotypic correction and plasma factor VIII activity. In addition to the skin, however, some factor VIII expression was detec...

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 ...

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 ...

The gene for the coagulation protein factor VIII contains several common restriction fragment length polymorphisms which can be used to analyse the pattern of inheritance of factor VIII alleles within families. This can be exploited to identify carriers of haemophilia, an X-linked inherited disorder characterised by deficiency of factor VIII. In this study the polymerase chain reaction was used...

A circulating anticoagulant against factor VIII activity was demonstrated in the plasma of a boy from a family with both factor VIII deficiency and prolonged bleeding time. However, the factor VIII-related antigen, ristocetin-induced platelet aggregation activity, platelet retention in glass bead columns, platelet aggregation with adenosine 5'-diphosphate, collagen and epinephrine, and clot ret...

BACKGROUND: Combined factor V and VIII deficiency (CF5F8D) is a rare autosomal recessive disorder, with an estimated prevalence of about 1:100,000 in the Jewish population. Affected individuals have between 5 and 30% of normal levels of factor V and VIII, whereas the levels of other plasma proteins are not altered. This bleeding disorder has been treated by replacement therapy with plasma infus...

Normal human plasma contains a complex of two proteins that are important in hemostasis and coagulation. The factor VIII procoagulant protein (antihemophilic factor) and the factor VIII-related protein (von Willebrand factor) are under separate genetic control, have distinct biochemical properties, and have unique and essential physiologic properties. While the nature of their interaction and t...

When plasma is separated or recovered from a blood donation or when plasma is collected by plasmapheresis the end result is not just a fluid which can be used in the treatment of many medical conditions but a raw material which can be used for the production of specific life saving or life enhancing medications for a variety of conditions. These conditions include Haemophilia A and Haemophilia ...