The field of gene therapy has gained momentum in recent years thanks largely to the clinical successes for the treatment of monogenetic hereditary diseases. Since the early years of gene therapy, hemophilia had been widely regarded as an important target disease in its own right and a trailblazer for the field at large (Axelrod et al., 1990; Kay & High, 1999). The disease and the underlying gen...

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In th...

BACKGROUND AND PURPOSE The treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia can be very challenging. The purpose of our study was to evaluate our experience with endovascular epistaxis embolization in patients with hemorrhagic hereditary telangiectasia and to compare this with our experience in patients treated for idiopathic epistaxis. MATERIALS AND METHODS Over ...

Hereditary factor XIII (FXIII) deficiency is a rare autosomal bleeding disorder which can cause life-threatening bleeding. Acquired be immune-mediated or due to increased consumption reduced synthesis. The most commonly used screening test insensitive, and widely quantitative assays have analytical limitations. present study sought validate Technofluor FXIII Activity, the first isopeptidase-bas...

The problem of impaired hemostasis remains relevant even today. Rare bleeding disorders that cause life-threatening in patient are often overlooked by clinicians. blood coagulation a genetically determined group coagulopathies caused deficiency plasma proteins involved hemostasis, as well fibrinogen, prothrombin, factor V (FV), factors and VIII (FV+FVIII), VII (FVII), X (FX), XI (FXI), XII (FXI...

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and n...