g. the PedsQL, KINDL, SF-36, EQ-5D). Depending on the purpose for which the questionnaire is being administered, it may be useful to include both a disease-specific and a generic QoL measure in people with haemophilia. Quality of life (QoL) in people with haemophilia varies reflecting intrinsic (e.g. disease severity) and extrinsic (e.g. access to clotting factor concentrates) factors. The World Health Organization defines QoL as ‘individuals’ perception of their position in life in the context of the culture

find more and value systems in which they live and in relation to their goals, expectations, standards and concerns’ [1]. Several haemophilia specific QoL instruments have been developed and tested to varying degrees. A Canadian measure, The Canadian Haemophilia Outcomes – Kids’ Life Assessment Tool (CHO-KLAT) was developed using a clinimetric approach with emphasis on the perspectives of children [7]. The CHO-KLAT is a 35-item questionnaire that has been evaluated in boys with haemophilia ≤18 years of age [28, 29]. The instrument has good measurement properties and has been translated and cognitively debriefed in a number of languages. A European tool, the Haemo-QoL, was developed

using a psychometric approach with primary emphasis on the perspectives of clinical MG-132 manufacturer experts [30]. The questionnaire is available in three age versions (ages 4–7, 8–12 and 13–16 years). Other haemophilia specific QoL measures include the Haemofilia-QoL, the Hemolatin QoL and the Haemo-QoL-A [31-33]. Personal characteristics (e.g. body mass) and environmental factors (e.g. access to clotting factor concentrates) play an important part in the ability of an individual with haemophilia to participate in a variety of activities. At the individual level,

personal characteristics also include expectations (e.g. the desire to be ‘normal’) and are an important determinant of the level of activity and participation observed in any individual subject. The relationship between disease (haemophilia) and outcome is most predictable at the body-structure function level. However, participation outcomes are increasingly recognized as the most salient measure as viewed from the perspectives Etoposide in vivo of patients and families. Appreciation of the importance of participation, and the many factors that influence the level of participation for a given individual, is very important if healthcare providers and funding agencies are to meet the expectations of the haemophilia population. [34, 35]. The majority of people with haemophilia globally do not have access to care. In Europe, there is a 17-fold difference in access to FVIII on a per capita basis between Sweden and Romania [36]. It is difficult to persuade Governments to use resources for rare diseases such as haemophilia. Advocacy based on humanity, solidarity or emotion is not sufficient.