Management of haemophilia

Haemophilia is an inherited bleeding disorder associated with a deficiency of coagulation factor VIII or IX. The hallmark of the severe phenotype is recurrent and spontaneous bleeding into joints which can lead to crippling joint deformity and arthritis. The condition is inherited as an X-linked disorder although there is no family history in approximately one third of cases Recombinant products are now increasingly regarded as the treatment of choice. Prophylactic treatment prevents bleeds and the development subsequent arthropathy. Patients with haemophilia now live essentially normal lives and life expectancy approaches that of the normal population. Desmopressin is of value in cases of mild haemophilia A. Inhibitors to factor VIII arise in a significant minority of patients with haemophilia A and vigilance is required in screening children for the development of this complication. Bypassing agents such as FEIBA® and NovoSeven® may be used to control bleeding in such cases and the regular administration of large doses of coagulation factor concentrate will usually result in suppression of inhibitor production. Looking to the future, modified molecules with enhanced properties such as increased half-life will soon be available and trials of gene therapy are also underway.