Hemophilia A (HA) is an X-linked genetic hemorrhagic disorder resulting from a deficiency of blood coagulation factor VIII. The mutation type within the factor VIII gene may influence the clinical severity of hemophilia. It has also recently been suggested that the clinical phenotype of HA is influenced by co-inheritance of the factor V G1691A mutation or the factor II G20210A variant. This cli...

Individuals with hemophilia are deficient in one of the clotting factor proteins that are vital in the formation of a clot. Classic hemophilia or hemophilia A is a deficiency of factor VIII, while Christmas Disease or Hemophilia B is a deficiency of factor IX. The deficiency of one of these proteins comes about because of a mutation on the X chromosome. Patients with both types of hemophilia ar...

One of the major binding sites for factor VIII inhibitors is located within the A2 domain. In this study, phage display technology was used to isolate 2 human monoclonal antibodies, termed VK34 and VK41, directed toward the heavy chain of factor VIII. The V(H) domain of a single-chain variable domain antibody fragment (scFv) VK34 is encoded by germline gene segment DP-10. Epitope-mapping studie...

Hemophilia A is an X-linked recessive disorder caused by factor VIII deficiency, which is an important factor in the coagulation system. Here, we describe a 1-year-old boy with hemophilia A who developed West syndrome (WS). Recombinant factor VIII was administered during adrenocorticotropic hormone (ACTH) therapy to prevent intracranial hemorrhage. Infusion of factor VIII at fixed intervals is ...

Factor VIII binds to phosphatidylserine (PS)-containing membranes through its tandem, lectin-homology, C1 and C2 domains. However, the details of C1 domain membrane binding have not been delineated. We prepared 4 factor VIII C1 mutations localized to a hypothesized membrane-interactive surface (Arg2090Ala/Gln2091Ala, Lys2092Ala/Phe2093Ala, Gln2042Ala/Tyr2043Ala, and Arg2159Ala). Membrane bindin...

Hemophilia represent the most severe inherited bleeding disorder (INB) , it’s thought to affect inviduals from all geographical areas in equal frequency. In Egypt which has a population of approximately (80million) consanguineous marriage are frequent, therefore autosomal recessive coagulation disorders reach a higher prevalence than in many other countries. The primary aim of this study was to...

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many investigations have proved relations between abo blood groups with some diseases and factor viii and von willebrand level in plasma. in this study we investigated a relation between abo blood groups and factor viii and ix inhibitors in 102 patients with haemophilia a and 48 patients with haemophilia b. the assay of inhibitor was done by bethesda method. there were no relation between abo b...