Objective:
Haemophilia A is an X-linked recessive bleeding disorder that affects males. Emerging data support evidence for increased bleeding in female haemophilia A carriers, and more haemophilia carriers are seeking care in Haemophilia Treatment Centers. Given that data regarding the effect of increased bleeding on health related quality of life (HR-QOL) in haemophilia A carriers is sparse, we tested the hypothesis that haemophilia A carriers have reduced HR-QOL related to bleeding symptoms.
Methods:
We conducted a cross-sectional, case-control study at Vanderbilt University in Nashville, Tennessee. Case subjects were obligate or genetically verified haemophilia A carriers age 18 to 60 years. Control subjects were recruited from mothers of children with cancer who receive care at the Vanderbilt pediatric hematology oncology clinic. Trained interviewers administered the Rand 36-Item Health Survey 1.0, a validated questionnaire evaluating eight health concepts that may affect HR-QOL, to each study participant. The score for each of the eight health domains ranges from 0 to 100 with a lower score indicating poorer HR-QOL. Mann-Whitney U tests were used to compare median scores for the eight health domains between the case and control groups.
Summary:
Forty-two haemophilia A carriers and 36 control subjects completed the Rand 36- Item Health Survey 1.0 and were included in analyses. All but one participant had normal factor VIII activity. Haemophilia A carriers had significantly lower median factor VIII activity (75% versus 138.5%, p-value <0.001 by Mann-Whitney U test) and significantly higher Tosetto bleeding scores (5 versus 1, p<0.001 by Mann-Whitney U test) compared with controls. Haemophilia A carriers had a significantly lower median score for the domain of “Pain” compared to control subjects (73.75 versus 90; p= 0.02). In the domain of “General health”, haemophilia A carriers had a significantly lower median score compared to the control group (75 versus 85; p= 0.01).
Conclusion:
Haemophilia A carriers in our study demonstrated significantly lower median scores on the Rand 36-item Health Survey in the domains of “Pain” and “General Health” compared to women in the control group. Our findings highlight the need for further investigation of bleeding in haemophilia A carriers and the effect of bleeding on HR-QOL in this population.