ImpaHCta—Haemophilia Carriers Quality of Life Assessment

INTRODUCTION: Early identification of female haemophilia carriers (HC) before menarche is important to prevent potential heavy menstrual bleeding, provide preconception and prenatal care, render effective delivery and postpartum management and provide proper care towards haemostatic challenges. AIM: Evaluate HC women's bleeding phenotype and assess health-related quality of life (HRQOL). METHODS: Cross-sectional, non-interventional, single centre study evaluating the bleeding tendency and quality of life of female adult haemophilia A or B carriers, compared with a healthy adult female control group. We used the International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool (ISTH-BAT), to evaluate bleeding phenotype, and the Portuguese version of the Short Form-36 (SF-36) questionnaire, to assess HRQOL. Clotting factor activity (%) and the F8 or F9 gene variant of HC were determined. RESULTS: Median ISTH-BAT score was higher in carriers compared to noncarriers (2, [IQR 0-6] vs. 0, [IQR 0-1], p < 0.001). HC had significantly lower median scores in physical (84.8% vs. 90.7%, p = 0.01) and mental (70.2% vs. 82.1%, p < 0.001) SF-36 components than controls. The subgroup of HC with increased bleeding tendency (ISTH-BAT score ≥ 6) presented significantly lower clotting factor levels and lower scores in all SF-36 domains than the other HC. HC F8 and F9 pathogenic variants showed no significant influence on bleeding phenotype, factor levels or HRQOL. CONCLUSION: Our HC cohort presented worse HRQOL when compared to the general female age-matched population without a direct correlation with FVIII/FIX levels. Carriers with the severe bleeding phenotype tend to have significantly lower clotting factor levels.