Joint involvement and disability in children with hemophilia: A cross-sectional study from Southern Rajasthan

INTRODUCTION

Hemophilia is an X-linked inherited bleeding disorder characterized by a deficiency of clotting factors VIII or IX, leading to spontaneous and recurrent bleeding episodes.^[1,2] Repeated hemarthroses, particularly in weight-bearing joints, result in progressive hemophilic arthropathy and long-term disability.^[1,3]

India contributes significantly to the global hemophilia burden, with marked regional variation in access to factor replacement and prophylactic therapy.^[3,4] Limited data are available from Southern Rajasthan regarding the pattern of joint involvement and disability in pediatric hemophilia patients.^[5,6] This study is important because hemophilia-related joint disease is largely preventable with early diagnosis, timely prophylaxis, and appropriate rehabilitative care. However, access to comprehensive hemophilia services remains uneven across different regions of India, particularly in resource-limited settings such as Southern Rajasthan. There is a paucity of region-specific data describing the extent of joint involvement and functional disability among children with hemophilia from this part of the country. Generating local epidemiological evidence is essential to understand the true burden of hemophilic arthropathy, identify gaps in care, and guide clinicians and policymakers in planning targeted interventions. The findings of this study can help strengthen early referral, physiotherapy services, and advocacy for improved access to prophylactic factor replacement, thereby reducing long-term disability and improving quality of life in affected children.

MATERIAL AND METHODS

This cross-sectional observational study was conducted at the Department of Pediatrics, RNT Medical College, Udaipur, Southern Rajasthan, between January 2025 and June 2025.

RESULTS

A total of 66 patients with hemophilia were included in the study. The mean age of the study population was 19.45 ± 10.5 years (range: 1–42 years). The largest age group was 11–20 years (39.4%), followed by 1–10 years (24.2%), and 21–30 years (21.2%) [Table 1].

The mean age at diagnosis was 4.73 ± 4.5 years, with most patients (63.6%) being diagnosed before 5 years of age.

The majority had severe hemophilia (78.8%), while 21.2% had moderate hemophilia.

Regarding educational status, 42.4% were school-going, 39.3% were graduates (including 4 MBBS and 1 engineer), 15.1% pre-school, and 3% uneducated.

Most of the patients (83.3%) had previously received plasma-derived FVIII therapy, while a small subset had received combination therapies (4.5%) or extended half-life factors (1.5%).

Comorbidities were present in 3 patients (4.5%), including hypertension, mental retardation, and poliomyelitis. Only 2 patients (3%) were on concomitant medications (levetiracetam and telmisartan).

Joint involvement

The knee was the most commonly involved joint (75.8%, P < 0.001), followed by ankle (31.8%), shoulder (16.7%), elbow (16.7%), and hip (4.5%) [Table 2, Figure 1].

Table 2: Joint involvement in hemophilia patients (n=66).

Joint affected	Number of patients	Percentage (%)	P-value
Knee	50	75.8	<0.001*
Ankle	21	31.8	0.087
Shoulder	11	16.7	0.214
Elbow	11	16.7	0.198
Hip	3	4.5	0.305

*denotes statistical significance

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Figure 1:

Joint involvement in hemophilia patients (n=66).

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Disability status

Overall, 44 patients (66.7%) had documented disability. This finding was statistically significant (P = 0.037)^[5,7,8] [Table 3, Figure 2].

Table 3: Disability status in hemophilia patients (n=66).

Status	Number of patients	Percentage (%)	P-value
With disability Without disability	44 22	66.7 33.3	0.037 —

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Figure 2:

Disability status in hemophilia patients (n=66).

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DISCUSSION

Our study highlights that the knee joint is the most frequently affected (75.8%) in children with hemophilia, consistent with previous reports from Indian and international studies.^[3,4] The high rate of knee arthropathy can be attributed to mechanical stress and recurrent hemarthrosis in weight-bearing joints.^[6-8] Ankle joint involvement (31.8%) was the second most common, whereas hip joint arthropathy was rare (4.5%).^[3,4] Payal et al., also reported knee joints were involved 67.9%, ankles in ~51.8%, elbows in ~35.7%, hips in ~12.5%, and shoulders in ~5.4%. in hemophilia A.^[3] Dalyan et al., also reported among 25 hemophilia patients (mean age 17), knees were most commonly affected, followed by elbows, ankles, and hips.^[4]

The disability rate in our cohort was 66.7% in hemophilia patients, aligning with the study of Phadke et al. Among a convenience sample of 148 patients with severe hemophilia A, 79% of those aged over 25 years had physical disability, 68% of those aged 13–24 years were similarly disabled^[5] [Table 4].

The statistically significant association between knee involvement (P < 0.001) and overall disability (P = 0.037) emphasizes the need for strengthening hemophilia care services, including early prophylaxis, physiotherapy, and access to multidisciplinary care.

A limitation of the present study is the absence of a standardized disability scoring scale, which precluded quantitative assessment of disability severity and correlation with disease severity and extent of joint involvement. Future studies incorporating validated tools such as the Hemophilia Joint Health Score or Functional Independence Score in Hemophilia would allow more robust comparisons and functional outcome assessment.

CONCLUSION

Knee joint arthropathy is the most common musculoskeletal manifestation in hemophilia, in which two-thirds of patients experience disability. Early intervention and prophylaxis are crucial to reduce morbidity.