Etiology, Classification, Pathogenesis, and Clinical Features of Hemophilia in Children
Pathogenesis of Hemophilia - Molecular mechanisms, coagulation factor deficiencies, and pathophysiological effects
Hemophilia is a genetic disorder characterized by deficient clotting factors, leading to excessive bleeding in children. Its pathogenesis involves mutations in key coagulation genes, affecting hemostasis.
Etiology, Classification, Pathogenesis, and Clinical Features of Hemophilia in Children
Hemophilia is a genetic bleeding disorder resulting from deficiencies in coagulation factors, primarily Factor VIII (hemophilia A) and Factor IX (hemophilia B). This condition manifests in childhood with spontaneous bleeding and prolonged bleeding after injuries.
Pathogenesis of Hemophilia
Hemophilia stems from mutations in the F8 or F9 genes, leading to insufficient production of clotting factors. This disrupts the coagulation cascade, resulting in excessive bleeding. Pathophysiological effects include hemarthrosis, spontaneous hemorrhages, and impaired wound healing.
Clinical Features
- Spontaneous bleeding episodes
- Joint and muscle hemorrhages
- Prolonged bleeding post-surgery or injury
- Development of inhibitors to clotting factors
Treatment and Management
Therapeutic approaches involve clotting factor replacement therapy, gene therapy, and supportive care. Early diagnosis and personalized treatment plans improve patient outcomes.
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