Abstract:
Introduction. Hemophilia is a genetic disorder characterized by impaired blood coagulation, leading to increased bleeding
risk. The severity of hemophilia varies significantly among individuals, influenced by genetic factors, family inheritance
patterns, and the occurrence of complications such as hemarthrosis. Understanding these interrelationships is crucial for
developing tailored management strategies for affected children. The purpose of this article is to explore the correlations
between clinical severity and various factors, including modes of inheritance, hemarthrosis incidence, types of genetic
mutations, and inhibitor presence in pediatric patients with hemophilia. By elucidating these relationships, the study aims
to contribute to improved diagnostic and therapeutic approaches in this population.
Material and methods. This retrospective analysis included 90 pediatric patients diagnosed with hemophilia. Clinical
data regarding disease severity, inheritance patterns, hemarthrosis incidents, genetic mutation types, and inhibitor levels
were collected and analyzed statistically to identify significant associations.
Results. The analysis revealed a strong correlation between familial inheritance patterns and disease severity, with
moderate forms predominating in known inheritance cases. Hemarthrosis was most prevalent in severe cases, particularly
affecting the knee and elbow joints. The study also found significant associations between genetic mutations, especially
missense mutations, and the severity of hemophilia. Furthermore, elevated inhibitor levels were exclusively observed in
severe forms of the disease.
Conclusions. The findings highlight the intricate relationships between clinical characteristics and hemophilia severity,
emphasizing the necessity for individualized treatment strategies. Understanding these dynamics can facilitate better
management of hemophilia in pediatric patients, ultimately improving their quality of life.
