Rare Disease Report

Hemophilia B and Quality of Life

DECEMBER 05, 2016
Andrew Black
Hemophilia B is a genetic disorder caused by missing or defective factor IX, a clotting protein.

At the 58th Annual ASH Meeting & Exposition, Buckner et al studied the health-related quality-of-life (HRQoL) of patients diagnosed with mild to severe hemophilia B.
The B-HERO-S study characterized factors that affect HRQoL in adult patients with hemophilia B and caregivers of affected children. Subjects studied were both male and female 18-years and older. Children who caregivers looked after were under 18.
Adults completed 4 standardized patient reported outcome (PRO) instruments which include (EQ5D-5L with VAS [0‒100 scale] and calculated index [-0.11‒1.00], brief pain inventory [BPI SFv2, 0‒10 scale], PHQ9 [0‒27 score], and international physical activity questionnaire [IPAQ, low/moderate/high category]); and one disease-specific PRO (hemophilia activities list [HAL, 0‒100 score for domains]).
The caregivers of the study completed 2 standardized PROs for depression and anxiety (PHQ9, GAD7 [0‒21 score]).
This was the first study to examine HRQoL in patients with hemophilia of both genders and caregivers of affected patients with mild-to-severe hemophilia B using multiple PRO instruments.

Patients with hemophilia B

48% of patients who were diagnosed with hemophilia also had arthritis. 43% had osteoporosis. 29% had acute pain whereas 13% had chronic pain. 23% suffered from anxiety and 22% had depression.
 87% of patients were educated passed high school and 81% of patients were employed. 54% of patients were married/in a long-term relationship
Patients treated with routine infusions reported higher depression scores than those treated on demand. While 94% reported some physical activity, 2/3 of the patients were categorized as moderate or high activity; unexpectedly, there were more mild patients reporting low activity and more severe patients categorized as high. There were no apparent differences in upper and lower extremity functional ability (HAL) domains or composite scores across hemophilia severity or by gender; PWH on routine infusions had worse scores than those treated on demand.



86% of the caregivers in the study were educated past high school and were employed. 89% of them were married/in a long-term relationship
Based on PHQ9 results, more than half of caregivers reported at least mild depression; just under half reported mild anxiety.


Buckner T, Witkop M, Guelcher C, et al. Impact of Mild to Severe Hemophilia B on Quality of Life Including Pain and Functional Abilities in Affected Men/Women and Caregivers of Affected Boys/Girls: Analysis of Patient Reported Outcomes in the Bridging Hemophilia B Experiences Results and Opportunities into Solutions (B-HERO-S) Study. Presented at the 58th Annual ASH Meeting & Exposition; San Diego, CA; December 3-6, 2016. Abstract 215.

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