Although a number of studies have analysed so far the causes of death and the life expectancy in haemophilic populations, no investigations have been conducted among Italian haemophilia centres. Thus, the aim of this study was to investigate mortality, causes of deaths, life expectancy and co-morbidities in Italian persons with haemophilia (PWH). Data pertaining to a total of 443 PWH who died between 1980 and 2007 were retrospectively collected in the 30 centres who are members of the Italian Association of Haemophilia Centres that chose to participate. The mortality rate ratio standardized to the male Italian population (SMR) was reduced during the periods 1990-1999 and 2000-2007 such that during the latter, death rate overlapped that of the general population (SMR 1990-1999: 1.98 95% CI 1.54-2.51; SMR 2000-2007: 1.08 95% CI 0.83-1.40). Similarly, life expectancy in the whole haemophilic population increased in the same period (71.2 years in 2000-2007 vs. 64.0 in 1990-1999), approaching that of the general male population. While human immunodeficiency virus infection was the main cause of death (45%), 13% of deaths were caused by hepatitis C-associated complications. The results of this retrospective study show that in Italian PWH improvements in the quality of treatment and global medical care provided by specialized haemophilia centres resulted in a significantly increased life expectancy.

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.

Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by a lack or decrease of coagulation factor VIII activity. The molecular diagnosis of HA is challenging and a variety of different mutations have been identified throughout the F8 gene. Our aim was to detect the causative mutation in 266 HA patients from Emilia-Romagna region (Italy) and in all suspected carriers. Molecular analysis of F8 in 201 HA patients (152 index cases) was performed with a combination of several indirect and direct molecular approaches, such as long distance polymerase chain reaction, multiplex ligation-dependent probe amplification, denaturing high performance liquid chromatography and direct sequencing. The analysis revealed 78 different mutations, 23 of which were novel, not having been reported in national or international databases. The detection rate was 100%, 86% and 89% in patients with severe, moderate and mild HA, respectively. The information provided by this registry will be helpful for monitoring the treatment of HA patients in Emilia-Romagna and also for reliable genetic counselling of affected families in the future.

The social inclusion of the Roma population represents a topical issue that must be considered from both the scientific and social action perspectives. Governments, through their pivotal role in defining societal values and norms, are essential to promoting the social inclusion of vulnerable populations. To argue this perspective, the present study examines some other pivotal social institutions that play relevant roles in the professional insertion of the Roma: family, education, and the residential community. The study uses an interpretative approach, leveraging the institutional ethnography methodology. We found that a key predictor of successful Roma population integration is their occupational integration; therefore, we examined the employment obstacles and barriers Roma ethnics face and the effects of the support of public institutions. The interviewees have an undifferentiated perception of all categories of support provided more by public institutions other than government income sources, and less as social, educational, and social integration resources. The research findings show how employment options for Roma population are dependent on the social practices, customs, and values promoted by their family and communities, with clear consequences on their capacity to enter the labor market and keep a job. Thus, our research supports the necessity for new openings in the study of professional insertion in various work contexts and considering the work perspective, which is derived from the social relations outside the labor market dynamics.

The article reports on a qualitative study of Roma employability in Romania. Being the largest ethnic minority group in Europe, the Roma population is the object of profound marginalization in most of the countries where they reside, by measures such as spatial segregation and exclusion from the formal labour market. This article focuses particularly on the Roma living in rural segregated communities. Inspired by institutional ethnography, the aim is to explore the social organization of rural Roma employability from the standpoint of the Roma themselves. The main obstacles to employment, as they are known and shared by our interviewees, are a lack of available jobs within reach, their own lack of education and a rejection by employers on the grounds of them being Roma. As the analyses show, these obstacles, and the individual’s experiences and knowledge about them, are shaped and maintained by extended translocal relations of administration and governance, thus making the rural Roma dependent on a precarious secondary labour market of low-paid day work for neighbouring farmers. The uncertainty of this work, and the organization and work of everyday life it implies for the people inhabiting these communities, further increases the distance to formal employment. It is this complex set of relations coordinating people’s doings that produce the employability of Roma inhabiting the rural segregated communities.