About Hemophilia: Disease Symptoms, Treatment, and More
First, gain a basic understanding on hemophilia and what living with hemophilia is like before diving into the potential of gene therapy.

What is hemophilia?

Hemophilia is a rare, genetic disease that affects the body’s ability to clot blood properly. This can lead to excessive bleeding following injuries or surgery, and even spontaneous bleeding.1

What causes hemophilia?

Hemophilia is a monogenic genetic disease, meaning it is caused by a single gene mutation of either the F8 or F9 gene. Genes are segments of DNA that provide individual cells with instructions for making specific proteins. Proteins are responsible for many critical functions in your body, but sometimes there is a change, or mutation, in a gene that results in faulty or absent protein production.

What causes hemophilia?

While some mutations have no effect on the body, others, such as mutations that affect the body’s ability to create the proteins that clot blood, can lead to genetic conditions like hemophilia.1

Since a single gene mutation is responsible for hemophilia A or B, gene therapy may be a potential treatment option.

What are the
different types of
hemophilia?

There are two main types of hemophilia, each caused by a single genetic mutation on a different gene:

  • Hemophilia A – Caused by a deficiency in factor VIII protein
  • Hemophilia B – Caused by a deficiency in factor IX protein. This is also sometimes called Christmas Disease.1

In hemophilia A, the F8 gene is mutated, so the body produces a low amount of factor VIII protein.
In hemophilia B, the F9 gene is mutated, and the body produces a low amount of factor IX protein.

These proteins, known as clotting factors, work together to help blood clot properly and stop bleeding. A low level of either factor VIII or factor IX proteins can impact the steps needed for hemostasis.1

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What are Symptoms of Hemophilia?
Bruising easily and frequent bleeding (such as nosebleeds) are common signs of hemophilia. People with hemophilia A or B have low levels of clotting factor VIII or clotting factor IX which, depending on severity, may lead to spontaneous bleeding or prolonged bleeding after injuries or surgeries.1
The severity of hemophilia is classified by the amount of factor proteins in the blood. For example, when factor levels are below 1% in the blood, a person is classified as having severe hemophilia. People with severe hemophilia are more likely to experience hemophilia disease symptoms like bleeding, which may contribute to long-term health problems like joint damage, acute and chronic pain, and reduced mobility.2
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When and How is Hemophilia Diagnosed?

According to CDC data, most people with hemophilia are diagnosed at a very young age.3
The average age of hemophilia diagnosis is:

  • 36 months – mild hemophilia
  • 8 months – moderate hemophilia
  • 1 month – severe hemophilia

Since there is often family history of hemophilia, sometimes doctors conduct prenatal testing before birth to diagnose hemophilia. Doctors can also diagnose babies soon after birth with a special blood test. One third of babies born with hemophilia have no known history of the disease and a diagnosis is made after an unusual bleeding event occurs.3

Since hemophilia is an X-linked disorder, males with a single X chromosome are much more likely to inherit hemophilia than females with XX chromosomes.4

Clotting factors are only found on the X chromosome, not the Y. So, if a male has the mutation on his only X chromosome, he’ll have hemophilia. If a female has the hemophilia mutation on one of her X chromosomes, it’s likely her other X chromosome will function normally, offering some protection against developing hemophilia herself.

In some cases, females with the mutation on only one X chromosome can still experience mild bleeding symptoms. Women with the hemophilia mutation are most likely a hemophilia carrier and can pass the disease down to children. It’s possible for hemophilia to be hidden within a family for many generations if it passes only through females who do not experience bleeding symptoms.4

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How is hemophilia treated and managed?
Existing hemophilia treatments aim to replace or mimic clotting factor proteins so blood can clot properly. These hemophilia medicines are typically infused into the bloodstream or injected under the skin.
Some existing hemophilia therapies may require repeat dosing, and blood clotting factor levels may fluctuate. For example, factor levels may be highest immediately following a dose and lowest just before the next dose is received.5
Which hemophilia treatment is right for me?
There are many considerations when identifying the most appropriate treatment option for each hemophilia patient. Doctors aim to provide the best treatment regimen for each specific patient’s needs, genetics, the severity of symptoms, access to care, and lifestyle implications.
Beyond managing a treatment regimen, patients with hemophilia also spend time managing other healthcare considerations, such as connecting with hemophilia support groups, finding financial assistance, identifying a health plan, and coordinating insurance coverage for treatments.5
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How is hemophilia treated and managed?

Existing hemophilia treatments aim to replace or mimic clotting factor proteins so blood can clot properly. These hemophilia medicines are typically infused into the bloodstream or injected under the skin.

Some existing hemophilia therapies may require repeat dosing, and blood clotting factor levels may fluctuate. For example, factor levels may be highest immediately following a dose and lowest just before the next dose is received.5

Which hemophilia treatment is right for me?

There are many considerations when identifying the most appropriate treatment option for each hemophilia patient.
Doctors aim to provide the best treatment regimen for each specific patient’s needs, genetics, the severity of symptoms, access to care, and lifestyle implications.

Beyond managing a treatment regimen, patients with hemophilia also spend time today managing other healthcare considerations, such as connecting with hemophilia support groups, finding financial assistance, identifying a health plan, and coordinating insurance coverage for treatments.5

Recommended Resources for Hemophilia Patients & Caregivers
Are there gene therapy hemophilia treatments?
Some existing therapies may require repeat dosing, and blood clotting factor levels may fluctuate. For example, factor levels may be highest immediately following a dose and lowest just before the next dose is received.
Learn more about potential gene therapy for hemophilia by downloading the brochure or completing the form to be contacted by a representative to see if you may be a candidate for a breakthrough hemophilia therapy.

References

  1. What is Hemophilia?. Centers for Disease Control and Prevention. Accessed 02-12-24.
  2. Hemophilia A. National Bleeding Foundation. Accessed 02-12-24.
  3. Data & Statistics on Hemophilia. Centers for Disease Control and Prevention. Accessed 02-12-24.
  4. How Hemophilia is Inherited. Centers for Disease Control and Prevention. Accessed 02-12-24.
  5. Treatment of Hemophilia. Centers for Disease Control and Prevention. Accessed 02-12-24.

Download a summary about the potential of gene therapy research in hemophilia.

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