An observational, cross-sectional cohort study was conducted among patients with mild hemophilia by investigators who sought to assess the incidence, risk factors, and health-related quality of life (QoL) associated with arthropathy among individuals with the condition. Results of the analysis were published in Haemophilia.

The Hemophilia Joint Health Score (HJHS) was utilized for the clinical assessment of the participants. This score evaluates 8 items and global scores in elbows, knees, and ankles, with higher HJHS scores indicative of deteriorated joint health.

Among individuals with hemophilia, arthropathy is a key determinant of health-related QoL, causing pain, restrictions in mobility, and limitations in daily activities.

Continue Reading

The patients were being followed up at the Haemophilia Foundations of Buenos Aires and Tucumán, both located in Argentina. All participants were evaluated between February 2021 and June 2022.

All data were collected in a single interview then reviewed by a physiotherapist and an orthopedist. Study inclusion criteria were mild hemophilia in individuals aged 4 or more years, treatment in 1 of the 2 Argentinian hemophilia centers, and consent provided by a parent or guardian.

Learn more about experimental therapies for hemophilia

Additionally, an ultrasound evaluation was performed and the Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score was obtained; patients were considered to have arthropathy when at least 1 of 6 joints had a HEAD-US score of 1 or greater. The Pettersson score was used for radiologic assessment of hemophilic arthropathy, joint pain was analyzed with the visual analog scale, and QoL evaluations were performed.

Eighty-five patients and 510 joints were included in the study. All of the participants had both elbows, both knees, and both ankles evaluated (ie, 170 elbows, 170 ankles, and 170 knees). The mean participant age was 35.9 years. The median age in patients with arthropathy was 44.2 years, compared with 14.9 years in those without arthropathy
(P <.001). In patients aged 20 or more years, 90% exhibited the presence of arthropathy.

Overall, only 28% (24 of 85) of the patients had no joint damage (HEAD-US=0), whereas 72% (61 of 85) of the participants had at least 1 joint with a HEAD-US of 1 or greater. Among the 3 joints evaluated, the ankle was the most commonly affected. Patient age was reported to be the most important risk factor linked to the development of arthropathy.

“Joint damage as a result of prior hemarthrosis was the most relevant factor associated with lower QoL, and emphasized the importance of early diagnosis and appropriate management in this particular population,” the researchers concluded. “Mild hemophilia remains challenging.”

Patients with mild hemophilia typically experience only sporadic bleeds and fewer clinically evident joint bleeds than those with moderate or severe hemophilia. This makes them less likely to receive an early diagnosis and appropriate medical care and treatment.


Daffunchio C, Landro ME, Galatro G, et al. How mild is mild haemophilia? Haemophilia. Published online January 25, 2023. doi:10.1111/hae.14750