What Is Hemophilia?

We understand the challenges faced by someone living with hemophilia. People with hemophilia have low levels of a protein called clotting factor, which is essential for blood clotting. This inability to clot results from a problem in a person's DNA that appears in approximately 1 case in every 5,000 male births.¹ Hemophilia treatment has come a long way in the past few decades, but we still have a long way to go. It is estimated that across the globe only about a quarter of the approximately 400,000 people with hemophilia receive the treatment they need.²

There are two types of congenital hemophilia, which means that people are born with them: hemophilia A and hemophilia B. Hemophilia A is caused by a lack of factor VIII, and hemophilia B is caused by a deficiency of factor IX. These factors are proteins that help the body control bleeding by forming functional blood clots. Without these blood-clotting factors, a person can have uncontrolled internal bleeding, which may occur following an injury or surgery. In the most severe form of hemophilia, bleeds can, at times, occur without obvious injury. Depending on the site in the body, these bleeds can result in severe joint, brain, and organ damage.¹

Another type of hemophilia is acquired hemophilia. Acquired hemophilia is rare, though possibly life-threatening, and caused by the development of autoantibodies (inhibitors) against blood coagulation factors. Unlike congenital hemophilia, acquired hemophilia is typically found in older adults, and occurs in both men and women. Also, the pattern of bleeding seen in acquired hemophilia is different from that observed in the more common congenital form. In acquired hemophilia, people typically bleed into the skin, muscles, and soft tissues, as opposed to bleeding into joints, which is more typical in congenital hemophilia.

Treatments

Bleeding episodes are treated with clotting factor replacement therapies that have been approved by regulatory agencies. These factor replacement therapies are either taken from human blood plasma (plasma-derived products) or are made using genetically engineered cells that carry a human factor gene (recombinant products). Due to certain properties of clotting factors, all factor replacement therapies are currently administered intravenously, directly into a vein.³

Additionally, therapy for hemophilia can either be on demand, to control a bleeding episode, or prophylactic, to avoid spontaneous bleeding episodes, with factor product administered on a regular schedule. There is a growing amount of information suggesting that prophylactic treatment of hemophilia can prevent permanent joint damage and allow people to live more normal, productive lives.⁴ Therefore, providing an easy and convenient product intended for prophylactic treatment would be a major breakthrough in improving treatment accessibility for people with hemophilia.

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References: 1. Hemophilia facts. Centers for Disease Control and Prevention website. Available at: http://www.cdc.gov/ncbddd/hemophilia/facts.html. Accessed May 25, 2011. 2. What is hemophilia? World Federation of Hemophilia website. Available at: http://www.wfh.org/2/1/1_1_hemophilia.htm. Accessed June 6, 2011. 3. Hemophilia treatments. Centers for Disease Control and Prevention website. Available at: http://www.cdc.gov/ncbddd/hemophilia/treatments.html. Accessed May 25, 2011. 4. Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med. 2007;357:535-544.