OBJECTIVES: The emergence of new modalities, including gene therapies, has raised interest in the multidimensional value of hemophilia treatments. This study aimed to collect a wide range of evidence on the value of hemophilia treatment in Japan, mainly from the health economic and quality of life perspectives, through a systematic literature review.

METHODS: The target databases used were PubMed (since 1990) and the Japanese literature databases ICHUSHI and CiNii. We developed a search strategy that included keywords related to "hemophilia," "cost," and "quality of life," and selected evidence from any study design for Japanese hemophilia patients, excluding those related to efficacy and safety outcomes.

RESULTS: Forty articles were identified, consisting of 22 original papers, 15 abstracts, and 3 research reports. Of those, three were published in the 1990s, 10 in the 2000s, 16 in the 2010s, and 11 in the 2020s. Thirty-two articles focused on specific hemophilia treatments (14 on medication, 7 on surgery, 7 on treatment options e.g., switch to prophylaxis, and 4 on other topics), while the remaining eight dealt with quality of life regardless of treatment type. By outcome, 10 articles assessed cost outcomes, 8 assessed quality of life outcomes and 32 assessed other outcomes; 8 assessed multiple types of outcomes. The other outcomes included physical activity, work productivity, and medical burden, and since 2010, several articles have focused on reducing the mental burden of patients and caregivers.

CONCLUSIONS: With the development of new therapies for hemophilia since 2010, there has been a growing body of evidence in Japan focusing on the broader value of hemophilia treatment in addition to the traditional outcomes of treatment cost and quality of life. However, since most of the articles only discussed the value of hemophilia treatment qualitatively, more quantitative evidence is strongly required in the future.