In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people...

Hemophilia A, a deficiency of functional coagulation factor VIII (FVIII), is treated via protein replacement therapy. Restoring 1% to 5% of normal blood FVIII activity prevents spontaneous bleeding, making the disease an attractive gene therapy target. Previously, we have demonstrated short-term activity of a liver-specific AAV2 vector expressing canine B-domain-deleted FVIII (cFVIII) in a hemo...

Hemophilia B is an X-chromosome-linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factor IX activity (FIX:C) levels may also experience some bleeding. Genetic analysis has been undertaken for hemophilia B since the mid-1980s, through linkage analysis to track inheritance of an affected allele, and to enable determination of the familial mutatio...

Intravenous administration of recombinant human factor IX (rhFIX) acutely corrects the coagulopathy in hemophilia B dogs. To date, 20 of 20 dogs developed inhibitory antibodies to the xenoprotein, making it impossible to determine if new human FIX products, formulations, or methods of chronic administration can reduce bleeding frequency. Our goal was to determine whether hemophilia B dogs rende...

Comprehensive hemophilia treatment centers (HTCs) were first inaugurated more than 50 years ago. In 1976, a federally funded HTC network was created in the United States, making multidisciplinary care for patients with hemophilia and other inherited bleeding disorders available throughout the country for the first time. Education of the patient and healthcare professional in the management of b...

UNLABELLED BACKGROUND & OBJECTIVE  The factor VIII (FVIII) B domain shares very little amino acid homology with other known proteins and is not directly necessary for procoagulant activity. Despite this, missense mutations within the B domain have been reported in patients with hemophilia A. Given that the B domain is dispensable for secretion and function of FVIII, we hypothesized that thes...

We gave danazol (600 mg/day orally for 14 days) to eight adults with mild or moderate hemophilia A, one with severe hemophilia A, and one with moderate hemophilia B. In the patient with severe hemophilia A, the levels of factor VIII two to four days after an infusion of factor VIII concentrate were higher than expected, suggesting a prolonged half-life. In one patient with mild hemophilia A, a ...

To the Editor: The availability of replacement factor products and improvements in treatment strategies over time have led to increased life expectancy of patients with hemophilia; consequently, the incidence of age-related comorbidities has increased in this population [1,2]. There have been conflicting published data regarding the risks of cardiovascular (CV) comorbidities in patients with he...

abstract background the purpose of this study was to assess the prevalence of major depressive and anxiety disorders in hemophilic and major beta thalassemic patients related to education of their mothers as a family’s agent. materials and methods a case-control study was performed on 34 major beta thalassemic patients. for each patient the control group was selected and matched (with age and s...

Hemophilia is a serious rare disease that requires continuous management and treatment for which the medicine is costly at the annual average of 100 million KRW for an individual. The aim of this study was to investigate trends in the utilization of coagulation factor (CF) used for hemophilia treatment using the National Health Insurance database from 2010 to 2013 in Korea and compare the utili...