OBJECTIVES: The objective of this systematic review was to identify and evaluate the published evidence base on the use of preference based measures for assessing haemophilia related outcomes, and to discuss their limitations and gaps for evidence based decision making. METHODS: A systematic review was carried out for 25 year time period 1988 to 2013 to investigate preference based evaluations of treatments and/or outcomes related to haemophilia. The search terms included: utility, QALY, standard gamble, time-trade-off, contingent valuation, conjoint analysis, and discrete choice. RESULTS: The search identified 22 original peer reviewed articles, covering a range of countries and treatments.   There were 7 cost-utility analyses, and 7 studies reporting  use of the EQ 5D to determine utility values for haemophilia  health states. Two studies, both from Canada, were vignette type studies that directly assessed utilities for treatment related health states.   The EQ 5D studies  produced reasonably consistent utilities, whereas the vignette studies produced variable results.  Six studies were  conjoint analysis and/or willingness to pay studies and focused on the value of attributes of new treatments.   As is typical of studies in rare diseases, there were limitations in all studies related mainly to small sample sizes, uncontrolled designs and potentially confounding factors.  The main evidence gaps were a lack of preference/utility data  for caregivers,  or the direct impact of bleeding on utilities, and only one study used a generic measure other than the EQ 5D (the SF-6D) to generate utilities for haemophilia health states. CONCLUSIONS: Given that haemophilia is a rare condition, there is a reasonably large evidence base of preference based studies for potential use in evidence based decision making. However, the limitations and gaps in the studies identified mean that there are still limitations in the evidence base to support a comprehensive assessment of the value of new interventions for haemophilia.