Hemophilia is a rare blood disorder that many people have heard of but few know much about. From the royal history of hemophilia to the innovative new research on gene therapy, there’s a lot to learn about this interesting group of blood disorders.

Bleeding problems that were once life-threatening are now treatable, and they may soon become curable diseases as researchers discover new ways to treat hemophilia. Here are some facts about hemophilia in the past, present, and future.

1. Hemophilia A Is the Most Common Type of Hemophilia

Most people with hemophilia have hemophilia A, also known as classic hemophilia. Hemophilia A is a deficiency in clotting factor VIII (8). The second most common type is hemophilia B, a lack of clotting factor IX (9). About three to four times as many people have hemophilia A compared to hemophilia B. Half of cases are considered severe based on the amount of clotting factor in the blood.

Even though hemophilia A is more common than hemophilia B, both types are still quite rare. It’s estimated that about 33,000 males live with hemophilia in the United States, according to the Centers for Disease Control and Prevention (CDC).

2. Hemophilia B Has Been Called the ‘Royal Disease’ and ‘Christmas Disease’

During the 19th and 20th centuries, royal families across Europe were affected by hemophilia. In England, Queen Victoria had nine children and passed on the gene for hemophilia B to three of them. When her son Leopold was 30, he died from excessive bleeding after a fall. Her daughters Alice and Beatrice carried the genes to the next generation.

Meanwhile, Tsar Nicholas of Russia had a son, Alexei, with hemophilia. Alexei married Alice’s daughter Alix — so Queen Victoria’s hemophilia genes traveled through three generations of royal families.

Another name for hemophilia B is Christmas disease. However, this nickname has nothing to do with the holiday. Stephen Christmas was the first person with hemophilia B to be described in a scientific paper published in 1952.

3. Treatments Were First Developed in the 1960s

Although hemophilia was recognized in the 1800s, the life expectancy for people with severe disease remained under age 20 for more than a century. In the 1960s, researchers gained a better understanding of the clotting process and treatment options for hemophilia.

In 1964, a British scientist named Robert Macfarlane published a paper on blood clotting. This paper described the process known as the clotting cascade. There are 12 factors, or substances needed to produce blood clots, numbered from factor I (1) to factor XIII (13). There is no factor VI (6).

A year later, Judith Graham Pool from Stanford University found that thawing out plasma left behind a substance high in factor VIII. Blood banks could store this “cryoprecipitate” to use in surgeries for people with hemophilia. By the 1970s, factor VIII and IX powders were developed to enable hemophilia treatment at home.

4. Hepatitis C and HIV Were Significant Setbacks

Advances in hemophilia treatment met with some serious issues over the years. The HIV/AIDs epidemic of the 1980s was devastating for the hemophilia population. Ultimately, about 50 percent of people with hemophilia became infected with HIV, leading to thousands of deaths from contaminated blood products.

Through the ‘80s and early ‘90s, the hepatitis C virus was transmitted through contaminated blood products and infected around 44 percent of people with hemophilia. Fortunately, a new testing protocol launched in 1992 eliminated the risk of hepatitis C transmission from hemophilia treatments. In addition, the development of recombinant factor concentrates, which are manufactured without human blood components, significantly reduced the transmission of hepatitis among people with hemophilia.

5. Hemophilia Often — But Not Always — Runs in Families

Hemophilia is generally considered an inherited bleeding disorder. This means that scientists have found specific genetic mutations that cause the disease. Although a person’s biological parents mostly determine their genetic makeup, new mutations can happen unexpectedly as a fetus is developing.

One in every 3 babies diagnosed with hemophilia has a new mutation that wasn’t passed down from family members. Parents who aren’t familiar with hemophilia may not think to request genetic testing at birth. However, doctors can do blood tests on babies who show symptoms of hemophilia, even if it’s not part of their family history. Early signs of hemophilia include excessive bleeding after delivery, circumcision, or vaccinations.

6. Hemophilia Also Affects the Joints

People with hemophilia must be careful to avoid injuries and treat them promptly or they risk losing too much blood. However, internal bleeding is also a concern. Bleeding in the joints can lead to symptoms similar to arthritis. Joint damage is generally worse for those with the severe form of hemophilia than for people with moderate or mild disease. Damage can accumulate over the years, eventually causing pain and limiting range of motion.

Preventive factor replacement therapy is the best way to reduce joint damage. But if you have significant damage, your health care provider may recommend surgery.

7. Costs of Hemophilia Treatment Are Extreme

Current treatment for hemophilia A and B involves infusions of the missing clotting factor. These injections can be given regularly at home to help prevent bleeding episodes, and they can also be given as an emergency treatment for injuries.

These treatments significantly improve people’s lives with hemophilia, but they come with a hefty price tag. In the United States, clotting factor therapy can cost up to $300,000 annually — not counting other medical expenses, which may double the cost. In addition, people who don’t respond to standard treatments may expect to pay over a million dollars in annual health care costs.

Advocacy groups are working on legislation to help reduce the burden of paying for hemophilia treatment. But unfortunately, many families end up footing the bill for at least a portion of the cost through their health insurance deductibles, copays, and coinsurance. Prescription costs remain a heated point of debate that’s top of mind for people with chronic diseases like hemophilia.

8. Promising Genetic Therapies Are Available

A newer option for hemophilia treatment that’s gaining popularity is gene therapy. In gene therapy, people with hemophilia get injections of the gene that makes clotting factor. Gene therapy helps treat the root cause of hemophilia by reprogramming the body to make more clotting factor.

So far, two gene therapies are available for hemophilia, and more are being studied in clinical trials. Etranacogene dezaparvovec-drlb (Hemgenix) is approved to treat hemophilia B, and valoctocogene roxaparvovec-rvox (Roctavian) is approved for severe hemophilia A. However, to be eligible to receive gene therapy for hemophilia, people must not have developed inhibitors — antibodies against clotting factor VIII or IX — during the course of factor replacement therapy.

Scientists are also studying ways to edit people’s genes to fix clotting problems. As research continues, new gene therapies to treat hemophilia may become available. Hopefully, these additional options will help reduce medical expenses and the need for ongoing treatment. Meanwhile, one thing is for sure: Hemophilia treatment has come a long way.

Talk With Others Who Understand

MyHemophiliaTeam is the social network for people with hemophilia and their family members. On MyHemophiliaTeam, more than 6,600 members come together to ask questions, give advice, and share their stories with others who understand life with bleeding disorders.

Do you have any interesting hemophilia facts to add to the list? Share them in the comments below, or start a conversation by posting on your Activities page.