Gene Therapy: Redefining Hemophilia Treatment


PHILADELPHIA, Pa. (Ivanhoe Newswire) – Hemophilia – once a death sentence, is now on the verge of having a cure. An inherited disorder, mostly affecting boys, happens when blood doesn’t clot. Hemophilia can cause spontaneous and severe bleeding following an injury. Twenty years ago, there were only treatments to stop the bleeding. Now, gene therapies hold even more promise of one day curing this disease. Gene Therapy

The Ward brothers may have different interests, but Jadon and Roan have more in common than you can see.

“Hemophilia is when you have a lot of bleeding,” Roan says.

“My blood doesn’t clot like the average human,” Jadon explains.

Both were born with hemophilia.

Their mother, Melody Ward, says, “Definitely, a bleed is the biggest threat to them.”

“When I started 50 years ago, most of the patients with hemophilia had some kind of deformity or disability. You know, some were in wheelchairs, some wore braces, some were in crutches,” explains Regina Butler, RN, a hematology clinical manager at the Children’s Hospital of Philadelphia.

(Read Full Interview)

Butler has treated five generations of Melody’s family, including her father, uncles and now her sons, who take shots every few weeks to prevent bleeding.

“The treatment has evolved so rapidly. We kept getting better and better products,” Butler expresses.

Now, a new gene therapy has been approved by the FDA for Hemophilia B. Through a one-time IV infusion, Hemgenix instructs the body to create functional factor nine genes that will help the blood to clot.

Butler says, “It’s remarkable to me. I feel like I’ve come full circle in my career with hemophilia.”

Hemgenix can only be administered once, but its impact can last for years, making the injections the Ward boys take, obsolete.

“I didn’t think that there would be a time where I would say there was a cure for hemophilia,” Melody exclaims.

The treatment is currently approved for patients 18 years and older, but doctors hope in the future to be able to treat children as young as 12. The most common adverse reactions associated with Hemgenix include liver enzyme elevations, headaches, and flu-like symptoms.

Contributors to this news report include: Marsha Lewis, Producer; Kirk Manson, Videographer; Roque Correa, Editor.

To receive a free weekly e-mail on medical breakthroughs from Ivanhoe, sign up at:




REPORT:        MB #5313

BACKGROUND: Hemophilia is a rare genetic disorder that affects the blood’s ability to clot. People with hemophilia tend to bleed easily and have difficulty stopping bleeding after an injury. This condition is caused by a deficiency or absence of certain blood-clotting proteins, known as clotting factors. The two most common types of hemophilia are Hemophilia A, also known as Classic Hemophilia, and Hemophilia B, also known as Christmas Hemophilia. Hemophilia most affects boys, specifically Hemophilia A – affecting 1 in 5,000 boys. Four hundred baby boys are born with Hemophilia A every year. There are three major risks that come with hemophilia: (1) chronic joint disease or pain can be a result of bleeding in joints, (2) seizures or paralysis can be a result of bleeding in the brain, and (3) death can occur if the bleeding is not stopped, especially in the brain.


DIAGNOSING: The telltale signs and symptoms of hemophilia include, but are not limited to: excessive bleeding after a cut, injury, surgery, or dental work, a lot of large and deep bruises, excessive bleeding after a vaccination, swelling or tightness in joints, blood in the urine or stool, unexpected nosebleeds, and in babies, unexplained irritability. The signs of a brain bleed in people with hemophilia are: painful and lengthy headaches, vomiting, lethargy, double vision, sudden weakness, and/or seizures of convulsions. Doctors can diagnose hemophilia with a clotting-factor test. Hemophilia is also easily diagnosed if you have a family history of the disease. Pregnant women can also have their unborn child(ren) tested for hemophilia, but it is risky.


NEW TECHNOLOGY: The newest treatment for hemophilia, called Hemgenix, was recently approved by FDA to treat adults. According to the FDA, “Hemgenix is a one-time gene therapy product given as a single dose by IV infusion. Hemgenix consists of a viral vector carrying a gene for clotting Factor IX. The gene is expressed in the liver to produce Factor IX protein, to increase blood levels of Factor IX and thereby limit bleeding episodes.”



Jennifer Lee

(267) 426-6084

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at

Doctor Q and A

Read the entire Doctor Q&A for Regina Butler, RN, Hematology Clinical Manager

Read the entire Q&A