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.”

 

Sign up/E-Mails are not shared

Please Follow and Share

If you like my site please share it. Signing up will allow summary of posts to be sent directly to your email. I will never give away your email.

My Goal

Thank you so much for stopping by my health and beauty website. My goal is for all of us to live a happier, healthier life. I hope that learning about disease prevention, diagnosis and treatment may help you live a healthier life. I would also like to share news and stories that may inspire us.

Disclosure

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.

Be the first to comment

Leave a Reply

Your email address will not be published.


*