Introduction: Carriers of severe and moderate haemophilia A and B are expected to have approximately 50% of the normal level of factors VIII and IX. However, due to X chromosome inactivation in early embryonic life, factor levels can vary considerably. This can lead to increased bleeding tendency, which may in turn impact on health-related quality of life (HRQOL).
Aim: The aim of this study was to assess HRQOL in carriers of severe and moderate haemophilia with and without increased bleeding tendency.
Methods: One hundred and twenty-four adult carriers and 90 controls were recruited. Bleeding tendency was evaluated using a structured bleeding assessment tool. HRQOL was measured by the short form 36 (SF-36) questionnaire. The SF-36 scores were compared with Swedish normative age-matched data and reported as Z scores.
Results: There was no significant difference between the whole groups of carriers and controls in the Z scores of the eight SF-36 domains. The mental component summary (MCS) was lower in carriers, compared with controls (P = 0.048). The subgroup of carriers with an increased bleeding tendency had significantly lower Z scores compared to controls regarding the General Health (P = 0.008), the Social Functioning (P = 0.040) and the Mental Health (P = 0.048) domains. The MCS was significantly lower in this carrier subgroup than in controls (P = 0.033).
Conclusion: We conclude that the subgroup of carriers of haemophilia with increased bleeding tendency have impaired HRQOL. The SF-36 results indicate that this condition affects mental rather than physical health.
Keywords: bleeding score; bleeding tendency; carrier of haemophilia; haemophilia A; health-related quality of life; short form 36.
© 2015 John Wiley & Sons Ltd.