Hemophilia A and B
Conditions
Keywords
hemophilia A, hemophilia B, 30-Second Sit-to-Stand Test, Functional Performance, Hemophilic Arthropathy
Brief summary
Hemophilia is an inherited bleeding disorder characterized by recurrent musculoskeletal bleeding, particularly into joints, leading to impaired physical function and reduced functional performance. The 30-Second Sit-to-Stand Test (30STS) is a simple, reliable, and valid measure of lower extremity functional performance; however, evidence regarding its performance in individuals with hemophilia remains limited. This cross-sectional observational study aims to compare 30STS performance between adults with hemophilia and age-matched healthy controls and to investigate the relationship between 30STS performance, joint health, and activity level in individuals with hemophilia. Fifty-eight participants (29 individuals with hemophilia and 29 healthy controls) aged 18-35 years will be recruited. Participants will complete the 30STS. Individuals with hemophilia will additionally undergo joint health assessment using the Hemophilia Joint Health Score (HJHS) and activity evaluation using the Hemophilia Activities List (HAL).
Detailed description
Hemophilia is an inherited bleeding disorder caused by deficiency of coagulation factor VIII (hemophilia A) or factor IX (hemophilia B), resulting in recurrent bleeding episodes. Repeated musculoskeletal bleeding, particularly hemarthrosis, may lead to progressive joint damage, reduced physical activity, muscle weakness, and impaired functional performance. Therefore, objective assessment of physical function is important for monitoring functional limitations and planning appropriate rehabilitation strategies in individuals with hemophilia. The 30-Second Sit-to-Stand Test (30STS) is a simple, practical, and reliable performance-based assessment used to evaluate lower extremity strength, endurance, and functional mobility. Although the test is widely used in different populations, evidence regarding 30STS performance in individuals with hemophilia is limited. Comparing functional performance between individuals with hemophilia and healthy peers may provide valuable information regarding the functional impact of hemophilia and may contribute to clinical assessment approaches. The aim of this cross-sectional observational study is to compare 30STS performance between individuals with hemophilia and age-matched healthy controls. Additionally, the study aims to investigate the relationship between 30STS performance, joint health status, and activity level in individuals with hemophilia. A total of 58 participants aged 18-35 years will be included in the study, consisting of 29 individuals diagnosed with hemophilia A or hemophilia B and 29 age-matched healthy controls. All participants will perform the 30STS. Demographic characteristics, including age, height, and body weight, will be recorded. For participants with hemophilia, additional clinical information including hemophilia type, disease severity, bleeding history, and prophylaxis status will be collected. Joint health status of individuals with hemophilia will be evaluated using the Hemophilia Joint Health Score (HJHS), and functional activity level will be assessed using the Hemophilia Activities List (HAL). The results of the 30STS will be compared between groups, and associations between functional performance, joint health, and activity level will be analyzed within the hemophilia group. The findings of this study may contribute to a better understanding of lower extremity functional performance in individuals with hemophilia and may provide clinically relevant information for functional evaluation and rehabilitation planning
Interventions
None listed
Sponsors
Bahçeşehir University
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
MALE
Age
18 Years to 35 Years
Healthy volunteers
Yes
Inclusion criteria
Hemophilia Group: * Diagnosis of hemophilia A or hemophilia B * Age between 18 and 35 years * Ability to walk independently * Willingness to participate in the study voluntarily Healthy Control Group: * Age between 18 and 35 years * No history of hemophilia or other bleeding disorders * No history of lower extremity surgery or serious lower extremity injury within the previous 6 months * No neurological, rheumatological, or severe orthopedic disorders * Willingness to participate in the study voluntarily
Exclusion criteria
Hemophilia Group: \- Acute joint bleeding episode within the previous 3 months
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 30-Second Sit-to-Stand Test Performance | Baseline assessment (single assessment visit) | The primary outcome of this study is the performance on the 30-Second Sit-to-Stand Test (30STS). The test evaluates lower extremity functional performance by recording the number of correctly completed sit-to-stand repetitions within 30 seconds. The test will be performed once under standardized conditions in both the hemophilia group and healthy control group. Number of complete sit-to-stand repetitions performed from a standard chair within 30 seconds. Scores range from 0 to no fixed maximum, with higher scores indicating better lower extremity functional performance and muscle endurance. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Joint Health Status Assessed by Hemophilia Joint Health Score (HJHS) | Baseline assessment (single assessment visit) | Joint health status will be assessed in participants with hemophilia using the Hemophilia Joint Health Score (HJHS). The HJHS evaluates hemophilic arthropathy-related findings including swelling, muscle atrophy, crepitus, range of motion loss, and pain in target joints. Total HJHS score ranges from 0 to 124; lower scores indicate better joint health and higher scores indicate greater joint impairment. |
| Hemophilia Activities List (HAL) | Baseline assessment (single assessment visit) | Functional activity level in participants with hemophilia will be assessed using the Hemophilia Activities List (HAL), a patient-reported outcome measure evaluating limitations in daily activities and participation. The total score ranges from 0 to 100, with higher scores indicating better functional ability and fewer activity limitations. |
Countries
Turkey (Türkiye)
Contacts
CONTACTTuğçe Poyraz İşleyen
PRINCIPAL_INVESTIGATORTığçe Poyraz İşleyen
Bahçeşehir University
Outcome results
None listed