Physiological Basis of Hemostasis and Anticoagulants

Hemophilia: Types, Genetic Basis, Pathophysiology, and Clinical Manifestations

Hemostasis is the complex physiological process that prevents excessive bleeding while maintaining normal blood circulation. Disorders affecting this mechanism, such as hemophilia, can lead to severe bleeding tendencies.

Types of Hemophilia

• Hemophilia A: Deficiency of Factor VIII.
• Hemophilia B: Deficiency of Factor IX.
• Hemophilia C: Factor XI deficiency, rare and milder.

Genetic Basis

Hemophilia A and B are X-linked recessive disorders, primarily affecting males, while Hemophilia C is an autosomal disorder impacting both sexes.

Pathophysiology

In hemophilia, the lack of clotting factors results in defective fibrin clot formation, leading to prolonged bleeding episodes.

Clinical Manifestations

• Spontaneous bleeding.
• Hemarthrosis (bleeding into joints).
• Intracranial hemorrhage (in severe cases).
• Prolonged bleeding after surgery or trauma.

Treatment Approaches

Current management includes recombinant clotting factors, gene therapy, and antifibrinolytics to control bleeding episodes.

Conclusion

Understanding the genetic and physiological basis of hemophilia aids in the development of effective treatment strategies, improving patient outcomes.