Possible New Treatment For Hemophilia B

gene edition CRISPR and oral medication for hemophilia B

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 cascade

  • 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

Hemophilia A

  • Classic hemophilia
  • Factor VIII deficiency

Hemophilia B

  • Christmas disease
  • Factor IX deficiency

Hemophilia information

  • 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.

Gene Therapy

  • 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

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.”


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This medical information is for content only, it is not meant to treat. Any specific questions relating to your medical condition should be directed to your doctor.

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