A web‐based registry of inherited bleeding disorders in the region of Emilia‐Romagna: results at three and a half years

Abstract

A Registry of inherited bleeding disorders was set up in the Region of Emilia-Romagna (RER) to collect information about these diseases and to improve the quality of care. From January 2003, the eight Haemophilia Centres (HC) in the RER began to use computerized clinical records; every 6 months, they send data to Parma Hospital to be processed and published in a website (http://www.registroemofiliarer.it). Great efforts are made to ensure high quality of data. Results of general interest are included in a free 'public area' and more sensitive data in a 'reserved area' (open only to HC and to health authorities). A total of 610 individuals are included: 249 haemophilia A (HA), 63 haemophilia B (HB), 173 von Willebrand's disease, 69 rare bleeding disorders, seven platelet disorders and 49 haemophilia carriers; 131 were genotyped, 188 were tested for inhibitors (16 affected). The most frequent bleeding was haemarthrosis. The joint score (evaluated in 104 haemophiliacs) was higher in severe HA. There were 22 HIV-positive and 182 hepatitis C virus-positive patients (21% have chronic hepatitis, two hepatocellular carcinoma). In 2005, two patients received primary prophylaxis, 47 secondary prophylaxis, four children were on immune-tolerance induction. From 2003 to 2005 the use of recombinant products was greatly increased and the majority of patients received them. The mean clotting factor consumption for prophylaxis was higher than on-demand treatment. The main features of registry are to collect high quality and comprehensive data of all patients followed by HC, to improve quality of care and it's availability on the web.

Hemophilia severity score system: validation from an Italian Regional Hemophilia Reference Center

“…JAK2V617F is a recurrent mutation in MPD with an allelic frequency estimated at 95% for PV and at 50% for ET [2]. The presence of the JAK2V617F mutation has been associated with an increased risk of thrombosis in patients with MPD [3]. In particular, a high prevalence of the JAK2V617F mutation has been reported in patients with splanchnic vein thrombosis (SVT), and the…”

“…Thus, we applied the hemophilia severity score (HSS) system to hemophiliacs referred to the Hemophilia Centre of Parma, the reference center for the Region of Emilia-Romagna in Italy [2]. The collection of the patientsÕ data required for the calculation of the three parameters of the HSS (bleeding score, joint score, and factor concentrate) was facilitated by the availability, since October 2002, of an electronic database developed to collect clinical data for the Registry and Network of Hemophilia Centres of the Emilia-Romagna Region [3]. In addition, since March 2007, data entry has been improved by the implementation of regional web-based clinical records in which patients can promptly record any bleeds and home treatments [4].…”

Rare Bleeding Disorders in Children: Identification and Primary Care Management

“…16,17,[19][20][21][22][23][24][25][26][27] RBDs encompass 3% to 5% of all inherited coagulation disorders overall 19,25 and, specifically, in children. 20 With a prevalence of 1 symptomatic person per 500 000 population, 28 FVII deficiency is the most common RBD, constituting 30% to 50% of various RBDs included in published series, 19,20,22,25,26,29,30 followed by FXI deficiency, which accounts for 23% to 39% of RBDs in various multinational registries. 19,25,26 The least common RBDs are FII and FXIII deficiencies, with a prevalence of ∼1 per 2 million each, 25,26 and vitamin K-dependent clotting factor deficiency (VKCFD), of which ,30 cases were reported as of 2008.…”

Registry‐based outcome assessment in haemophilia: a scoping study to explore the available evidence

“…The Emmilia Romanga Registry has offered complete online access to its data. The registry's website is directly linked to the database, thus combining the data from the various haemophilia centres; the results are presented in the form of tables, lists and graphs on various pages of the site [13]. This information is available for the registry contributors.…”

“…The most challenging issues with respect to using registry- based data are the minimization and management of missing data and loss to follow-up, handling changes in diagnosis and variable definitions and assuring the quality of data over time. Despite the obstacles that exist, outcome evaluation using registries is not only important for producing scientific evidence but also for healthcare planning and communication with patients, healthcare policymakers and the public [12][13][14].…”