Hemophilia and the Evolution of Treatment

Objectives: To show the research on Gene Therapy for Hemophilia.

Methods: The methodology to study the objective is to infuse healthy gene into patient’s body in two methods: 1. The direct infusion by a Vector which infusing gene carrier into patient’s body. The vector carries the clotting factor gene to the patient’s cells. Then it is directly communicate. 2. The cells which were transplanted into the patient’s body can communicate normal clotting factor. Small amount of clotting factor improves patient’s condition.

Findings: The long researches on Gene Therapy tried to production and development of a suitable and safe gene delivery system to long term expression of coagulation factors. Gene Therapy itself is an experimental treatment that involves introducing genetic material into Hemophilia patient cell to produce normal clotting factor. But it has its own limitations with side effects such as liver infection or failure. After the experience of side effects, a unique and novel technology, Adeno-Associated Virus was found. The unique feature in AAV is non-viral delivery system which allows the body to produce missing clotting factor naturally without the damage of the liver when compared with previous studies. In recent clinical trials all 7 patients of Hemophilia A who have received the high dose therapy to correct a defect gene and produce missing clotting factor naturally showed considerable improvement. Likewise in Hemophilia B also 13 patients who have received high dose therapy shown considerable production of missing clotting factor. When we see the results, they add more value to the existing reports.

Improvements: After Gene Therapy all the patients had a growth in missing factor level and they didn’t have any type of bleed for 18 months even though they had minor injuries.