Spectrum of Hemophilia in Children: A Cross-Sectional Study from A Tertiary Care Unit in Western India

Abstract

Background: Hemophilia is a rare, X-linked bleeding disorder, predominantly affecting males, caused by deficiencies of clotting factors. The disease imposes significant morbidity, especially in resource-limited settings. Diagnosis and management challenges, especially in rural areas, contribute to delayed care and adverse outcomes in Indian children.

Objectives: To describe the clinico-epidemiological profile, bleeding patterns, complications, and challenges in management of children with hemophilia admitted to a tertiary care hospital in Western India, aiming to inform improved strategies for care.

Methodology: This cross-sectional hospital-based study was conducted at CPR Hospital, Kolhapur, from June 2024 to June 2025. All children below 12 years, diagnosed with hemophilia and admitted for bleeding episodes or complications, were included following informed consent. Demographic, clinical, and laboratory data regarding disease severity, age at diagnosis, family history, bleeding patterns, joint involvement, complications, and inhibitor status were collected and analyzed descriptively using SPSS.

Results: A total of 45 children were included; all had Hemophilia A. Severe disease predominated (64.4%). Most were aged 5–10 years (51.1%) at admission. Rural residence (64.4%) was common, and family history was present in 46.7%. At first diagnosis, bruising (37.8%) and gum bleed (22.2%) were common presenting symptoms, whereas hemarthrosis (51.1%) predominated at admission. Bleeding episodes were more often traumatic (60%). The major joints affected were the knees (62.2%), elbows (46.7%), and ankles (42.2%). Complications included intracranial hemorrhage (15.6%) and joint movement limitation (6.7%). Inhibitor testing showed 31.3% positivity, complicating management. Most children had 1–5 bleeding episodes annually; the majority had no bleeding after vaccination.

Conclusion: Hemophilia A in Western Indian children shows predominance of severe disease, frequent joint bleeds, diagnostic delays, rural-urban disparities, and high inhibitor prevalence. Early diagnosis, enhanced rural care, regular inhibitor screening, and improved factor availability are essential for optimizing outcomes.