What is hemophilia?
- According to the NIH, “Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally.”
- People who are born with hemophilia have little or no clotting factor.
- Clotting factors are proteins needed for normal blood clotting.
- Clotting factors work with platelets to help the blood clot.
- When blood vessels are injured, clotting factors help platelets stick together.
- Clots are formed which helps prevents additional bleeding.
What happens if your blood does not clot?
- You will have an increased risk of bleeding.
- Bleeding can occur spontaneously or it can occur after injury and surgery.
- There can be damage to the organs as well as joints that can lead to stiffness and inability to bend the joint.
There are two different types of hemophilia
- Classic hemophilia
- Factor VIII deficiency
- Christmas disease
- Factor IX deficiency
- About 1 in 5,000 males are born with hemophilia each year.
- The two main types of hemophilia are A and B.
- Blood clotting factor VIII is low or missing with hemophilia A.
- Blood clotting factor IX is low or missing in hemophilia B.
- Hemophilia usually occurs in males as it is caused by a gene defect located on the X chromosome.
- Males have one X and one Y chromosome (XY),
- Females have two X chromosomes (XX).
- Males inherit the X chromosome from their mothers and the Y chromosome from their fathers.
- Females inherit one X chromosome from each parent.
How is hemophilia treated?
- The main treatment for hemophilia is called replacement therapy, factors are given to help the blood clot.
- These factors are given by an injection into the vein.
- Until 1992, all factor replacement products were made from human plasma which increase the risk of blood borne diseases.
- In 1992, the U.S. Food and Drug Administration (FDA) approved recombinant factor VIII (8) concentrate.
- These are called recombinant clotting factors and are not made from human plasma, there is no risk of blood borne disease.
Antibodies to replacement therapy
- Antibodies can develop and destroy the clotting factor which makes them less effective.
- It’s important for people with hemophilia to get tested yearly for inhibitors in order to detect them early.
- When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources.
- Researchers are trying to find ways to correct the faulty genes that cause hemophilia.
- UPenn just issued a press release today showing that they corrected hemophilia in mice using gene editing CRISPR-CAS9
- “Basically, we cured the mice,” said first author Lili Wang PhD, a research associate professor.
- Link for gene editing http://www.uphs.upenn.edu/news/News_Releases/2016/11/wilson/
Hiv and Hemophilia
- HIV was a new virus, the Centers for Disease Control and Prevention (CDC) reported the first few cases of HIV in 1981.
- Initially, there was no method to screen for HIV in donated blood.
- The National Hemophilia Foundation estimates that 90% of those with severe hemophilia were infected with HIV.
- Unfortunately many of those infected with HIV, died from AIDS.
- There have been no transmissions of HIV through factor VIII or IX products in the US since 1987.
Hope for an oral pill rather than an injection for hemophilia B
- Researchers Nicholas A. Peppas, Sorvana Horava ,Katie J. Moy
- Cockrell School of Engineering at The University of Texas at Austin.
- Publication-International Journal of Pharmaceutics.
- Link to read https://news.utexas.edu/2016/11/28/engineers-develop-first-ever-capsule-to-treat-hemophilia
About the study
- “Alleviating the burden of injections for children was the impetus for the research project, which started about nine years ago. ”
- “While an oral delivery platform will be beneficial to all hemophilia B patients, patients in developing countries will benefit the most,”
- Oral medications have not been effective as the drug is broken down by our intestinal enzymes which deactivates the drug.
- The researchers particle containing capsule has been patented.
- It is interesting to note that the patent covers both factors VIII and IX but the costs of research on factor VIII is higher.
- The researchers are concentrating on factor IX for now with hopes that the technology can be used for factor VIII at a later date.
- “As it moves through the body, the particle-containing capsule resists the major gastric enzyme to remain intact while in the stomach, providing protection for the encapsulated drug.”
- “In the small intestine, the capsule begins to swell with the increase in pH and is then degraded by the major intestinal enzyme, slowly releasing the drug over time.”