Thesis Abstract

Abstract
Hemophilia is a rare hereditary bleeding disorder characterized by a deficiency in clotting factors, particularly factor VIII (hemophilia A) or factor IX (hemophilia B). This leads to prolonged bleeding episodes even from minor injuries, surgical procedures, or spontaneously. The severity of the condition is determined by the level of the clotting factor in the blood. Hemophilia is classified as mild, moderate, or severe based on the amount of clotting factor present. Current treatment for hemophilia involves replacing the missing clotting factor through intravenous infusions. This prophylactic treatment aims to prevent bleeding episodes, joint damage, and other complications associated with the disorder. In recent years, there have been advancements in hemophilia treatment, including the development of extended half-life clotting factor products that allow for less frequent infusions. Despite these treatment options, challenges remain in managing hemophilia effectively. Patients may develop inhibitors, which are antibodies that neutralize the infused clotting factor, making treatment less effective. Inhibitor development is a significant concern, particularly in patients with severe hemophilia. Managing inhibitors involves immune tolerance induction therapy to reduce inhibitor levels and improve the response to clotting factor replacement therapy. In addition to inhibitors, patients with hemophilia are at risk of joint damage due to recurrent bleeding episodes. Joint health is a crucial aspect of managing hemophilia, and strategies such as physiotherapy and joint protection techniques are essential in preventing long-term complications. Genetic testing plays a vital role in the diagnosis and management of hemophilia. Identifying the specific genetic mutation causing hemophilia in an individual can guide treatment decisions and provide valuable information for family planning. Genetic counseling is recommended for individuals with hemophilia and their family members to understand the inheritance pattern of the disorder and the implications for future generations. Research efforts are ongoing to improve the treatment and quality of life for individuals with hemophilia. Gene therapy holds promise as a potential cure for hemophilia by introducing a functional copy of the deficient clotting factor gene into patients' cells. Clinical trials are underway to evaluate the safety and efficacy of gene therapy in treating hemophilia. In conclusion, hemophilia is a complex disorder that requires a multidisciplinary approach for optimal management. Advances in treatment options, genetic testing, and research hold promise for improving outcomes and quality of life for individuals living with hemophilia.

Thesis Overview