Prospects for the Diagnosis and Treatment of Hemophilia A

Hemophilia A is a single gene disease characterized by a lack of factor VIIIclotting activity which causes prolonged bleeding after injuries, toothextraction, or surgery and repeated bleeding before the injury is completelyhealed. Hemophilia A is also known as "classic hemophilia". Worldwide, theprevalence of hemophilia A at birth is estimated at ۱: ۱۰,۰۰۰. Hemophilia A hasbeen identified at three levels: severe, moderate, and mild, in each of them, theactivity of factor VIII is different. The inheritance of hemophilia A is recessiveand X-Linked. The risk of infecting children depends on the carrier status ofthe mother.Clinical features of hemophilia A include intracranial hemorrhage, prolongeddischarge, or re-bleeding after cessation of primary bleeding after toothextraction, oral injury, or circumcision, prolonged and recurrent nosebleeds,and so on. The age of diagnosis and the frequency of bleeding episodes dependon the clotting activity of factor VIII. Diagnosis of hemophilia A in a personwith low factor VIII coagulation is determined in the presence of a normal andfunctional level of the Von Willebrand factor. In a molecular genetics test,identification of a pathogenic type F۸ hemizygote confirms the diagnosis on amale proband, and identification of a pathogenic F۸ heterozygote confirms thediagnosis in an asymptomatic woman. Treatments include ongoing long-termclinical trials of factor VIII concentrates (Plasma-derived or recombinant factorVIII), bypass agents, and gene therapy. In this article, an attempt was made topresent new methods of diagnosis and treatment of hemophilia A.

کلیدواژه ها:

Hemophilia A ، Factor VIII ، Single gene diseases ، X-Linkedrecessive ، Gene therapy.