Haemophilia A is a common X-linked recessive disorder caused by mutations in F8 leading to deficiency or dysfunction of coagulant factor VIII (FVIII). Despite tremendous improvements in mutation screening methods, in a small group of patients with FVIII deficiency suffering from haemophilia A, no DNA change can be found. In these patients, analysis reveals no causal mutations even after sequenc...

Factor IX deficiency was associated with a hemorrhagic disorder in a woman who previously had experienced postpartum hypotension resulting in Sheehan’s syndrome. There was no family history of Christmas disease, and other known causes of factor IX deficiency were excluded. Plasma levels of factor IX were partially corrected by therapy with thyroid hormones and completely restored to normal by t...

is a congenital, often familial, hemorrhagic disorder which was distinguished from classical hemophilia (AHG deficiency, factor VIII deficiency, hemophilia A) in 1952.13 Like the latter, it is usually inherited as a sex-linked recessive trait: only the male hemizygote for the abnormal gene is clinically affected, and the female heterozygote or carrier is asymptomatic. From a eugenic standpoint ...

In this issue of Blood, back-to-back (dos-à-dos) papers by Chiu et al and Yee et al present complementary findings of structural investigations into the interaction between factor VIII (FVIII) and von Willebrand factor (VWF). The binding of FVIII to VWF contributes in a major way to the regulation of hemostasis.

background: haemophilia a (ha) is an x-linked bleeding disorder caused by the absence or reduced activity of coagulation factor viii (fviii). coagulation factors are a group of related proteins that are essential for the formation of blood clots. the aim of this study was to genotype the coagulation factor viii gene mutations using inverse shifting pcr (is-pcr) in an iranian family with severe ...

Hemophilia A is an X chromosome-linked disorder resulting from deficiency of factor VIII, an important protein in blood coagulation. A large number of disease-producing mutations have been reported in the factor VIII gene. However, a comprehensive analysis of the mutations has been difficult because of the large gene size, its many scattered exons, and the high frequency of de novo mutations. R...

we prepared a highly purified and relatively heat stable form of factor viii which contained 25 units per ml (u/ml) activity using peg-4000 and developed an effective and new manufacturing process. heat treatment was performed at 80°c for 72 hrs in the presence of different stabilizers. in our studies, we used different organic solvents as preservatives to maintain factor viii activity, since f...